| AnnotSV ID | ACMG classSV ranking class (from 1 to 5) following the 2020 joint consensus recommendation of ACMG and ClinGen | SV typeType of the SV (DEL, DUP...) | Annotation modeType of annotation lines generated: - annotation on the SV full length (full) - annotation on each gene overlapped by the SV (split) |
Gene nameGene symbol | LocationHover your mouse to highlight SV location annotations in the gene | OMIM IDHover your mouse to highlight OMIM annotations | Exomiser scoreShow how close each overlapped gene is to the patient phenotype Highly specific and consistent phenotype: score > 0.7 Consistent phenotype: score > 0.5 |
PhenoGenius specificityPhenotype specificity into one of A, B, C, D or . : A - Highly specific and relatively unique to the gene B - Consistent with the gene, highly specific, but not necessarily unique to the gene C - Limited association with the gene, not highly specific and/or with high genetic heterogeneity D - Not consistent with what is expected for the gene/genomic region or not consistent in general . - No reported phenotype |
Overlapped regulatory elementsReport the name of the genes potentially badly regulated | Pathogenic SVKnown pathogenic genes or genomic regions (with the same SV type; from ClinVar, ClinGen, dbVar, OMIM) completely overlapped with the SV to annotate | Number of pathogenic SNV/indel overlappedPathogenic SNV/indel (from ClinVar) completely overlapped with the SV to annotate | Benign SVBenign genomic regions (with the same SV type; from gnomAD, ClinVar, ClinGen, DGV, DDD, 1000g, IMH) completely overlapping the SV to annotate | Left breakpoint annotationsHover your mouse to highlight the left SV breakpoint (+/- 100bp) annotations | Right breakpoint annotationsHover your mouse to highlight the right SV breakpoint (+/- 100bp) annotations |
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5ACMG_class : 5 AnnotSV_ranking_score : 2.2 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3C (1518 genes, +0.90): 35+ genes wholly or partially included 5H (ADAMTS20/ALX1/ANO6/APAF1/ARID2/ATP6V0A2/CHST11/COL2A1/CS/DUSP6/GNPTAB/HOXC8/IFT81/KRT5/MARS1/MBD6/NABP2/PAH/PRICKLE1/PRIM1/PTPN11/RE:BMPR1B/RNF10/SP7/TBX3/TBX5/TCTN1/TCTN2/TRPV4, +0.30): The patient phenotype is highly specific and consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.7). |
DELSV_type : DEL SV_length : 100967822 Gene_count : 1518 |
fullAnnotation_mode : full |
LINC00941; LOC107984476; LOC124902911; TSPAN11; TSPAN11-AS1; [...1518genes]Gene_name : LINC00941; LOC107984476; LOC124902911; TSPAN11; TSPAN11-AS1; DDX11-AS1; DDX11; OVOS2; LOC124902912; SINHCAF; FLJ13224; LINC02387; LOC124903091; DENND5B; LOC124903111; DENND5B-AS1; LOC124902913; ETFBKMT; AMN1; LOC105369722; LOC105369724; LOC107984470; H3-5; LINC02422; LOC105369725; RESF1; BICD1-AS1; BICD1; FGD4; LOC124902914; DNM1L; YARS2; PKP2; SYT10; LOC105369726; ALG10; LOC124902915; LINC02963; LOC107984469; LOC124902916; ALG10B; LOC124902917; CPNE8; CPNE8-AS1; LOC107984484; LINC02406; KIF21A; LOC101927019; LOC124902919; ABCD2; LOC124902918; REDIC1; SLC2A13; LOC124900327; LOC112268095; LRRK2-DT; LINC02471; LOC105369735; LINC01779; LRRK2; LOC105369736; MUC19; CNTN1; LOC124903069; PDZRN4; LOC107984499; LOC107984498; LINC02400; LOC105378247; GXYLT1; YAF2; LOC124902920; LOC124902921; ZCRB1; MIR7851; PPHLN1; PRICKLE1; LINC02402; LINC02451; LINC02450; LINC02461; ADAMTS20; PUS7L; IRAK4; TWF1; TMEM117; LOC124902922; NELL2; DBX2; LOC105369742; DBX2-AS1; RACGAP1P1; PLEKHA8P1; ANO6; LOC105369743; LOC105369744; LINC00938; ARID2; LOC105369745; SCAF11; SLC38A1; LOC105378248; SLC38A2; SLC38A2-AS1; SLC38A4-AS1; LOC124902923; SLC38A4; LOC124902924; LOC124902925; LOC107984466; AMIGO2; PCED1B; MIR4698; PCED1B-AS1; LOC105369746; LOC105369747; LOC124900322; LINC02416; MIR4494; LINC02156; RPAP3; RPAP3-DT; ENDOU; RAPGEF3; SLC48A1; HDAC7; LOC124902926; LINC02354; VDR; TMEM106C; COL2A1; LOC105369752; LOC105369750; LOC124902927; SENP1; LOC101927180; PFKM; MIR6505; ASB8; CCDC184; LOC102725258; OR10AD1; LOC105369753; H1-7; ZNF641; C12orf54; ANP32D; OR8S1; OR5BS1P; LALBA; LOC124902928; KANSL2; SNORA2C; MIR1291; SNORA2A; SNORA2B; CCNT1; SPMIP11; ADCY6; MIR4701; ADCY6-DT; LOC101927241; CACNB3; DDX23; LOC105369755; RND1; CCDC65; FKBP11; ARF3; LOC124903110; WNT10B; WNT1; LOC105369757; LOC105369756; DDN; DDN-AS1; PRKAG1; KMT2D; RHEBL1; DHH; LOC105369759; LMBR1L; TUBA1B; TUBA1B-AS1; TUBA1A; TUBA1C; TROAP-AS1; PRPH; TROAP; C1QL4; DNAJC22; SPATS2; LOC100335030; KCNH3; LOC105369761; MCRS1; FAM186B; PRPF40B; FMNL3; LOC124902929; TMBIM6; NCKAP5L; BCDIN3D-AS1; BCDIN3D; FAIM2; LINC02396; LINC02395; LOC124902930; LOC105369763; AQP2; AQP5-AS1; AQP5; LOC105369764; AQP6; RACGAP1; ASIC1; SMARCD1; GPD1; COX14; CERS5; LOC124902931; LIMA1; MIR1293; LOC107984505; FAM186A; LARP4; SNORD133; DIP2B; LOC124902932; ATF1; TMPRSS12; TMT1A; HIGD1C; SLC11A2; LETMD1; CSRNP2; TFCP2; LOC124902933; POU6F1; DAZAP2; SMAGP; BIN2; LOC105369767; CELA1; GALNT6; SLC4A8; SLC4A8-AS1; SCN8A; TMDD1; FIGNL2; FIGNL2-DT; ANKRD33; ACVRL1; ACVR1B; TAMALIN-AS1; TAMALIN; LOC124902934; NR4A1; LOC107984510; NR4A1AS; ATG101; SMIM41; OR7E47P; LOC112268096; KRT80; LINC02874; LINC00592; KRT7; KRT7-AS; KRT87P; KRT86; KRT81; LOC124902935; KRT83; KRT85; KRT84; KRT82; KRT75; KRT6B; KRT6C; KRT6A; KRT5; KRT71; KRT74; KRT72; KRT73; KRT73-AS1; KRT2; KRT1; KRT77; KRT76; KRT3; KRT4; KRT79; KRT78; KRT8; MIR9898; KRT18; EIF4B; TNS2-AS1; TNS2; MIR6757; SPRYD3; IGFBP6; SOAT2; LOC124902936; CSAD; ZNF740; ITGB7; RARG; LOC122455340; MFSD5; ESPL1; PFDN5; MYG1; AAAS; SP7; SP1; AMHR2; PRR13; PCBP2; PCBP2-OT1; MAP3K12; TARBP2; NPFF; ATF7-NPFF; ATF7; LOC100652999; LOC124902937; LOC124902938; ATP5MC2; CALCOCO1; LOC105369774; CISTR; LOC105378250; LOC107984525; HOXC13-AS; HOXC13; LOC105369775; HOXC12; HOTAIR; HOXC11; HOXC-AS3; HOXC10; MIR196A2; HOXC-AS2; HOXC-AS1; HOXC9; HOXC8; LOC124902939; HOXC6; HOXC5; HOXC4; MIR615; FLJ12825; LOC100240735; LOC100240734; FAM242C; LINC02381; SMUG1-AS1; SMUG1; LOC102724030; LOC105369777; CBX5; MIR3198-2; SCAT2; HNRNPA1; NFE2; COPZ1; MIR148B; GPR84; GPR84-AS1; ZNF385A; ITGA5; GTSF1; NCKAP1L; PDE1B; PPP1R1A; GLYCAM1; LACRT; DCD; MUCL1; TESPA1; LOC107984515; NEUROD4; LOC101927484; OR9K2; OR10A7; OR6C74; OR6C6; OR6C1; OR6C3; OR6C75; OR6C65; OR6C76; LOC124902940; OR6C2; OR6C70; OR6C68; OR6C4; OR2AP1; OR10P1; TMT1B; ITGA7; BLOC1S1-RDH5; BLOC1S1; RDH5; CD63; CD63-AS1; GDF11; SARNP; ORMDL2; DNAJC14; TMEM198B; MMP19; LOC124903120; PYM1; LOC124902941; DGKA; PMEL; CDK2; RAB5B; SUOX; IKZF4; LOC105369781; RPS26; ERBB3; LOC105369782; PA2G4; RPL41; ZC3H10; ESYT1; LOC124902943; MYL6B-AS1; LOC124902942; MYL6B; MYL6; SMARCC2; LOC107984468; RNF41; NABP2; SLC39A5; ANKRD52; COQ10A; CS; CNPY2; CNPY2-AS1; PAN2; IL23A; STAT2; APOF; TIMELESS; MIP; SPRYD4; GLS2; LOC124902944; SNORA105C; RBMS2; BAZ2A; ATP5F1B; SNORD59B; SNORD59A; PTGES3; NACA; PRIM1; HSD17B6; LOC124900330; SDR9C7; RDH16; LOC124902945; GPR182; ZBTB39; TAC3; MYO1A; NEMP1; NAB2; STAT6; LOC124902946; LRP1; LRP1-AS; MIR1228; NXPH4; SHMT2; NDUFA4L2; STAC3; R3HDM2; R3HDM2-DT; INHBC; INHBE; LOC124902947; GLI1; ARHGAP9; MARS1; MIR6758; DDIT3; LOC128125814; MIR616; MBD6; DCTN2; KIF5A; PIP4K2C; DTX3; ARHGEF25; LOC101927583; SLC26A10P; B4GALNT1; OS9; AGAP2; AGAP2-AS1; TSPAN31; CDK4; MIR6759; MARCHF9; CYP27B1; METTL1; EEF1AKMT3; TSFM; AVIL; CTDSP2; MIR26A2; LOC105369783; LOC283387; LOC124902948; LOC101927608; GIHCG; ATP23; LOC105369784; LINC02403; LOC105369786; LOC105369787; LOC105369788; LOC105369789; LINC02388; LOC124902949; LOC100506869; LRIG3; LRIG3-DT; LINC02448; SLC16A7; LOC100996696; LOC124903070; LOC124903071; LOC105369793; TAFA2; LOC124902950; MIR6125; USP15; MON2; MON2-AS1; LINC01465; MIRLET7IHG; MIRLET7I; PPM1H; LOC124903103; LOC105369795; AVPR1A; LINC03056; LOC105369797; DPY19L2; RXYLT1; RXYLT1-AS1; MIR10527; SRGAP1; LOC105369801; LOC105369798; KICS2; LOC124902952; C12orf56; LOC124903101; XPOT; TBK1; LOC105369803; RASSF3; LOC124903098; LOC107984521; RASSF3-DT; MIR548C; MIR548Z; GNS; TBC1D30; LOC124903113; LINC02389; LINC02231; LOC107984522; WIF1; LOC124902953; LEMD3; MSRB3; LOC124902954; MSRB3-AS1; LOC105369809; LOC105369187; LOC105369808; LINC02454; LOC105369806; RPSAP52; HMGA2; HMGA2-AS1; LOC124902955; MIR6074; LINC02425; LLPH; LLPH-DT; TMBIM4; IRAK3; MIR6502; HELB; LOC124903104; GRIP1; LOC105369811; LOC124902956; LOC102724421; CAND1; LOC124902957; LOC105369813; LOC105369812; LOC124903072; LINC02420; LINC02408; LINC02442; DYRK2; LOC105369816; LOC124902958; LINC02421; LINC01479; IFNG-AS1; IFNG; LOC105369818; IL26; IL22; MDM1; LOC105369819; LINC02384; RAP1B; SNORA70G; LOC100507250; NUP107; SLC35E3; SZRD1P1; MDM2; CPM; TODL; CPSF6; MIR1279; LYZ; YEATS4; LINC02373; FRS2; SNORA113; MIR3913-1; MIR3913-2; CCT2; LRRC10; LOC105369823; BEST3; LOC101928002; RAB3IP; MYRFL; LOC124902959; LINC02821; PRANCR; CNOT2; KCNMB4; LOC105369828; PTPRB; PTPRR; LOC124902960; LOC124902961; TSPAN8; LOC105369831; LOC105369832; LOC124902962; LGR5; LOC105369833; LOC124902963; LOC124902964; ZFC3H1; LOC124900332; THAP2; LOC124902965; TMEM19; LOC107984530; RAB21; TBC1D15; MRS2P2; TPH2; TRHDE; TRHDE-AS1; LOC105369838; LINC02444; LOC105369839; LOC124902966; LINC02445; LOC124900319; LINC02394; LINC02882; LOC107987178; LOC124902967; ATXN7L3B; LOC101929967; LOC105369842; LOC105369843; KCNC2; LOC100130268; CAPS2-AS1; CAPS2; GLIPR1L1; LOC124902968; GLIPR1L2; GLIPR1; GLIPR1-AS1; KRR1; LOC105369844; LOC107984533; LOC105369846; LOC124902969; LOC105369847; PHLDA1; PHLDA1-AS1; PHLDA1-DT; NAP1L1; LOC124902970; LNCOG; BBS10; OSBPL8; LOC105369850; LOC105369851; ZDHHC17; CSRP2; LOC124902971; E2F7; LOC105369853; LOC124903107; LINC02464; LOC124902972; NAV3; LINC02424; LOC105369859; SYT1; LOC105369863; LOC124902973; MIR1252; PAWR; PPP1R12A-AS2; PPP1R12A; LOC124902974; PPP1R12A-AS1; OTOGL; PTPRQ; LOC124902975; LOC105369867; MYF6; MYF5; LINC01490; LIN7A; MIR617; MIR618; ACSS3; LOC107984535; MIR4699; PPFIA2; PPFIA2-AS1; LOC105369872; LINC02426; LOC105369873; CCDC59; METTL25; LOC107987180; LOC107984487; TMTC2; LOC105369874; LOC107984536; LOC124902976; LOC124903066; LOC105369875; SLC6A15; LOC102724680; TSPAN19; LRRIQ1; ALX1; LINC02820; LOC107984537; LOC124903073; RASSF9; NTS; MGAT4C; LOC105369877; MIR3059; LOC105369878; LOC105369879; LOC107984478; LOC105369880; LOC105369881; LINC02258; MKRN9P; C12orf50; LOC107984542; RLIG1; CEP290; LOC124902977; TMTC3; LOC124902978; KITLG; LOC124902979; LOC105369885; LOC105369886; LOC105369887; LINC02458; LOC105378255; DUSP6; LOC124902980; LOC124902981; POC1B; GALNT4; POC1B-GALNT4; POC1B-AS1; ATP2B1; ATP2B1-AS1; LOC107984543; LOC105369890; LINC02399; LOC105369892; LINC02392; LOC124902982; LINC02822; LOC105369895; LOC124903074; LINC00615; CCER1; EPYC; KERA; LUM; DCN; LOC124903075; LOC105369896; LOC107984544; LINC02823; LINC02404; LOC105369901; LINC01619; BTG1; BTG1-DT; LINC02391; LOC105369902; LOC107984467; CLLU1-AS1; CLLU1; LINC02397; LOC105369904; LOC105369905; LOC124902983; PLEKHG7; EEA1; LOC124902984; LINC02413; LOC643339; LOC105369908; LINC02412; LOC124903102; LOC124900325; LOC124903116; NUDT4; UBE2N; MRPL42; LOC124902985; SOCS2-AS1; SOCS2; CRADD; CRADD-AS1; LOC105369911; LOC105369912; LOC105369913; LOC124902986; PLXNC1; LOC124902988; LOC124902987; CEP83; CEP83-DT; LOC102724960; MIR5700; TMCC3; MIR7844; LOC105369914; LOC124902989; MIR492; KRT19P2; LOC105369915; NDUFA12; NR2C1; FGD6; VEZT; MIR331; MIR3685; LOC105369917; LOC107984545; METAP2; USP44; PGAM1P5; NTN4; LOC105369919; SNRPF-DT; LINC02410; SNRPF; CCDC38; AMDHD1; HAL; LOC102723340; LTA4H; LOC124902990; LOC105369923; LINC02452; ELK3; LOC124902991; CDK17; CFAP54; NEDD1; LOC124902992; LOC124902993; LOC105369928; LOC105369927; LOC101928912; LINC02409; LOC105369930; RMST; MIR1251; MIR135A2; PAFAH1B2P2; MIR4495; MIR4303; LOC105369932; LOC105369933; SLC9A7P1; LOC124902994; LINC02453; TMPO-AS1; TMPO; SLC25A3; SNORA53; IKBIP; APAF1; ANKS1B; LOC101928937; GARIN6; BLTP3B; BLTP3B-DT; GOLGA2P5; MIR1827; ACTR6; DEPDC4; SCYL2; SLC17A8; LOC124903108; NR1H4; GAS2L3; ANO4; SLC5A8; UTP20; LOC124903119; ARL1; SPIC; LOC105369935; MYBPC1; LOC105369938; LOC105369937; LOC124902996; CHPT1; SYCP3; LOC124902997; GNPTAB; LOC124903105; DRAM1; LOC107984548; WASHC3; NUP37; PARPBP; PMCH; LOC124902998; LINC02456; IGF1; LINC00485; PAH; LOC124902999; LOC112267865; ASCL1; C12orf42; LOC124903096; C12orf42-AS1; LOC105369945; LINC02401; STAB2; LOC124900318; LOC105369946; LOC124903106; NT5DC3; LOC124903000; LOC107984433; TTC41P; LOC124903001; HSP90B1; MIR3652; UQCC6; TDG; GLT8D2; HCFC2; NFYB; LOC105369947; LINC02385; TXNRD1; LOC124903002; EID3; LOC105369949; LOC124903003; CHST11; MIR3922; SLC41A2; LOC105369952; NOPCHAP1; ALDH1L2; LOC124903005; LOC414300; WASHC4; APPL2; C12orf75-AS1; C12orf75; LOC105369957; LOC105369956; LOC105369955; LOC105369958; LOC124903006; CASC18; LOC105369959; LOC107984435; LOC105369960; NUAK1; LOC124903007; CKAP4; LOC124903008; TCP11L2; POLR3B; LOC100287944; RFX4; LOC100505978; RIC8B; LOC105369961; TMEM263-DT; TMEM263; MTERF2; CRY1; LOC124903009; ABTB3; LOC124900324; PWP1; LOC124903010; PRDM4; PRDM4-AS1; ASCL4; LOC105369963; LOC728739; LOC105369964; WSCD2; LOC124903076; LOC105369965; LOC124903077; LOC124903078; CMKLR1; LINC01498; FICD; SART3; ISCU; TMEM119; SELPLG; LOC105369968; MIR4496; CORO1C; LOC105369969; LOC124900333; SSH1; LOC101929204; MIR619; DAO; LOC124903011; SVOP; LOC105378256; USP30; USP30-AS1; ALKBH2; UNG; ACACB; LOC105369974; FOXN4; MYO1H; LINC01486; KCTD10; UBE3B; MMAB; MVK; FAM222A; FAM222A-AS1; TRPV4; MIR4497; LOC105369975; GLTP; TCHP; LOC124903012; GIT2; LOC124903013; ANKRD13A; C12orf76; LOC105369976; IFT81; ATP2A2; LOC124903014; ANAPC7; ARPC3; GPN3; FAM216A; LOC124903016; VPS29; LOC124903015; LOC124903099; RAD9B; PPTC7; TCTN1; HVCN1; LOC124903017; PPP1CC; CCDC63; MYL2; LINC01405; LINC01404; LOC105369981; CUX2; LOC124903018; LOC105369983; MIR6760; PHETA1; LINC02356; SH2B3; LOC124903019; ATXN2; LOC124903094; ATXN2-AS; BRAP; LOC124903020; ACAD10; ALDH2; MIR6761; MAPKAPK5-AS1; MAPKAPK5; TMEM116; ERP29; LOC124903021; NAA25; MIR3657; LOC124903022; TRAFD1; HECTD4; MIR6861; RPL6; PTPN11; LOC124903023; LOC124903024; RPH3A; MIR1302-1; OAS1; OAS3; OAS2; DTX1; RASAL1; CFAP73; DDX54; MIR7106; RITA1; IQCD; TPCN1; MIR6762; SLC8B1; LOC105369989; PLBD2; SDS; SDSL; LHX5; LHX5-AS1; LOC105369990; LOC105369991; LINC01234; RBM19; LOC124903025; LOC105369993; LOC105369994; LOC105369995; LINC02459; TBX5; TBX5-AS1; LOC105369998; LOC124903026; TBX3; TBX3-AS1; LOC105369999; LOC124900329; LOC124903079; LOC124903080; LOC102723639; LOC124903081; LOC124903082; LOC105370003; LOC105370002; LINC02463; LOC124900323; MED13L; MIR620; LOC105370005; MIR4472-2; LOC105370007; LOC105370008; LINC02457; LINC00173; MAP1LC3B2; LOC124903028; LINC03088; SPRING1; RNFT2; HRK; FBXW8; LOC100506551; TESC; TESC-AS1; LOC105370010; FBXO21; NOS1; KSR2; LOC105370012; LOC105370011; RFC5; WSB2; LOC124903030; VSIG10; LOC124903029; LOC101928274; PEBP1; TAOK3; LOC124903031; SUDS3; LINC02460; LINC02423; LINC02440; LOC105370017; LOC107984472; LINC02439; LOC105370018; LOC105370019; LOC124900328; LOC105370020; SRRM4; LOC105370022; LOC105370021; LOC112268101; LOC105370024; HSPB8; LOC107984440; LOC105370026; LOC105370025; LOC124903032; LINC00934; CCDC60; LOC105370027; TMEM233; PRKAB1; LOC124903033; CIT; MIR1178; LOC112268087; BICDL1; LOC124903114; RAB35; RAB35-AS1; GCN1; MIR4498; RPLP0; PXN-AS1; PXN; LOC124903034; RNU4-2; SIRT4; RNU4-1; PLA2G1B; MSI1; COX6A1; TRIAP1; GATC; SRSF9; DYNLL1; NRAV; COQ5; RNF10; LOC128071547; POP5; CABP1-DT; CABP1; LOC105370029; MLEC; LOC124903035; LOC124903036; UNC119B; MIR4700; ACADS; SPPL3; XLOC_009911; HNF1A-AS1; HNF1A; C12orf43; OASL; LOC105378258; LOC105370031; LOC124900320; LOC105370030; LOC105370032; P2RX7; P2RX4; CAMKK2; ANAPC5; LOC124903037; RNF34; KDM2B; MIR7107; KDM2B-DT; ORAI1; MORN3; LOC105370034; TMEM120B; RHOF; SETD1B; LINC01089; HPD; LOC105370035; PSMD9; CFAP251; LOC124903038; BCL7A; LINC02985; MLXIP; LRRC43; IL31; B3GNT4; DIABLO; LOC128125816; LOC101593348; VPS33A; CLIP1; CLIP1-AS1; ZCCHC8; RSRC2; KNTC1; MIR9902-1; HCAR2; MIR9902-2; HCAR3; HCAR1; DENR; CCDC62; LOC124903040; HIP1R; LOC124903039; VPS37B; ABCB9; OGFOD2; ARL6IP4; PITPNM2; MIR4304; PITPNM2-AS1; MPHOSPH9; MTRFR; CDK2AP1; SBNO1; MIR8072; SBNO1-AS1; KMT5A; RILPL2; LOC124903041; SNRNP35; RILPL1; MIR3908; LOC124903042; TMED2-DT; TMED2; DDX55; LOC105370041; SNORA9B; EIF2B1; GTF2H3; TCTN2; ATP6V0A2; LOC105370042; DNAH10; LOC105370044; LOC124903043; DNAH10OS; CCDC92; ZNF664; ZNF664-RFLNA; RFLNA; NCOR2; MIR6880; LOC124903044; LOC105370047; LOC101927436; LOC124903045; SCARB1; LOC124903046; LOC105370050; UBC; MIR5188; DHX37; BRI3BP; THRIL; LOC105370052; AACS; LOC105370053; TMEM132B; LOC105370054; LOC107984445; LOC105370055; LOC124903047; LINC00939; LINC02826; LOC105370058; LOC105370056; LINC02359; LOC107984447; LOC105379613; LOC101927531; LOC107984448; LINC02825; LOC124903048; LINC02350; LINC02347; LOC100996671; LINC02824; LINC00944; LINC00943; LINC02372; LOC105370061; LINC02405; LOC105370063; LOC107984449; LOC107984450; LOC105370062; LOC105370064; LOC124903049; LINC02376; LOC124903050; LINC02375; LOC105370066; LOC105370067; LOC124903051; LINC02411; LOC105370068; LOC105370069; LOC124903052; LINC02393; LINC00508; LINC00507; LINC02441; LOC105370071; LINC02369; LINC02368; LOC107987176; TMEM132C; MIR3612; SLC15A4; LOC124903083; LOC100128276; GLT1D1; LOC124903084; LOC105370073; TMEM132D; LOC124903086; TMEM132D-AS1; TMEM132D-AS2; LOC105370074; LOC124903085; LOC105370076; LOC124903087; LINC02418; LOC105370077; LINC02419; LOC124903088; FZD10-AS1; FZD10; LOC107984480; LOC101927786; PIWIL1; RIMBP2; LOC105370080; STX2; LOC124903053; RAN; ADGRD1; LOC124903054; ADGRD1-AS1; LOC107984452; LINC01257; LOC105370082; LOC107987177; LOC100128002; LINC02415; LOC124903055; LINC02370; LOC124903090; LOC101929974; LOC124903056; LOC105370084; LINC02414; LOC105370086; LOC100996701; LOC124903057; LOC105370087; SFSWAP; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : 3 TS : . DDD_HI_percent : . ExAC_cnvZ : 1.85937346161046 ExAC_delZ : 2.00971959053756 ExAC_dupZ : 1.83044712798202 ExAC_synZ : 3.2671313474293 ExAC_misZ : 10.3449308517202 Closest_left : LOC645485 Closest_right : LOC105370088 |
.Location : . CytoBand : p11.21-q24.33 |
601150; 611104; 603850; 610957; 602861; OMIM_ID : 601150; 611104; 603850; 610957; 602861; 603313; 608283; 609007; 600016; 608500; 606883; 608663; 609539; 601769; 120140; 610681; 600294; 611088; 601906; 164820; 602113; 605423; 602529; 170710; 107777; 600442; 604980; 601735; 138420; 614478; 608364; 611379; 600523; 600702; 601284; 601300; 601928; 602153; 602765; 602767; 609025; 148042; 612315; 148041; 148040; 608245; 608248; 600194; 139350; 148043; 123940; 148070; 605378; 606633; 600956; 142976; 164017; 141180; 600536; 601617; 603936; 601807; 606887; 603701; 190151; 601734; 608730; 600556; 603887; 154050; 102910; 176635; 609769; 162330; 601512; 107770; 138450; 615521; 165220; 156560; 602821; 601873; 123829; 609506; 604723; 613397; 613893; 605862; 606523; 604834; 607664; 607844; 613719; 600698; 604459; 604597; 147570; 179530; 607617; 164785; 153450; 604909; 607478; 176256; 610148; 185605; 602021; 614925; 603317; 159990; 601527; 610142; 617218; 184745; 602748; 614784; 108731; 603288; 125255; 603454; 615847; 614530; 609457; 600370; 616365; 607557; 603826; 160794; 604759; 607840; 609264; 147440; 612349; 610128; 615748; 614366; 601933; 611911; 191525; 614636; 608047; 607568; 251170; 605427; 605489; 108740; 606949; 609863; 160781; 610648; 605093; 601517; 100650; 606723; 620209; 176876; 164350; 601620; 601621; 608771; 608014; 605629; 602072; 617210; 616359; 606885; 142410; 610277; 611055; 609695; 618146; 605219; 610034; 616381; 613481; 613541; 614092; 606686; 613846; 611716; 605884; 601040; 617362; OMIM_morbid : yes OMIM_morbid_candidate : yes |
1.0000Exomiser_gene_pheno_score : 1.0000 |
APhenoGenius_specificity : A |
HOXA13 (EX=1.0000/morbid/RE=mTL_miRNA); TWIST[...]RE_gene : HOXA13 (EX=1.0000/morbid/RE=mTL_miRNA); TWIST1 (HI=3/PG=A/EX=1.0000/morbid/RE=mTL_miRNA); LRP4 (EX=1.0000/morbid/RE=mTL_miRNA); GLI3 (HI=3/EX=1.0000/morbid/RE=mTL_miRNA); TBX4 (HI=3/EX=1.0000/morbid/RE=mTL_miRNA); FGFR1 (HI=3/PG=A/EX=1.0000/morbid/RE=mTL_miRNA); BMPR1B (PG=A/EX=1.0000/morbid/RE=mTL_miRNA); MOGS (EX=1.0000/morbid/RE=mTL_miRNA); SPRY4 (EX=0.9895/morbid/RE=mTL_miRNA); ADAMTS17 (PG=A/EX=0.9861/morbid/RE=mTL_miRNA); FGF9 (EX=0.9722/morbid/RE=mTL_miRNA); KAT6A (HI=3/EX=0.9709/morbid/RE=mTL_miRNA); PITX1 (EX=0.9707/morbid/RE=mTL_miRNA); AXIN2 (HI=3/EX=0.9548/morbid/RE=mTL_miRNA); NIPBL (HI=3/EX=0.9528/morbid/RE=mTL_miRNA); HNRNPK (HI=3/EX=0.9121/morbid/RE=mTL_miRNA); TLK2 (EX=0.9033/morbid/RE=mTL_miRNA); RUNX2 (PG=A/EX=0.8996/morbid/RE=mTL_miRNA); MSX2 (PG=A/EX=0.8989/morbid/RE=mTL_miRNA); EFNB1 (EX=0.8987/morbid/RE=mTL_miRNA); IL6ST (EX=0.8959/morbid/RE=mTL_miRNA); CWC27 (EX=0.8939/morbid/RE=mTL_miRNA); SCUBE3 (EX=0.8922/morbid/RE=mTL_miRNA); TGFBR2 (PG=A/EX=0.8790/morbid/RE=mTL_miRNA); SLC39A8 (EX=0.8786/morbid/RE=mTL_miRNA); LMBR1 (EX=0.8742/morbid/RE=mTL_miRNA); COL1A1 (HI=3/EX=0.8742/morbid/RE=mTL_miRNA); HUWE1 (EX=0.8738/morbid/RE=mTL_miRNA); SALL4 (HI=3/EX=0.8723/morbid/RE=mTL_miRNA); NUP85 (EX=0.8681/morbid/RE=mTL_miRNA); CEP152 (EX=0.8681/morbid/RE=mTL_miRNA); PCNT (EX=0.8681/morbid/RE=mTL_miRNA); DNA2 (EX=0.8681/morbid/RE=mTL_miRNA); DSE (EX=0.8650/morbid/RE=mTL_miRNA); FBN2 (EX=0.8640/morbid/RE=mTL_miRNA); RECQL4 (EX=0.8639/morbid/RE=mTL_miRNA); ESCO2 (EX=0.8612/morbid/RE=mTL_miRNA); KANSL1 (HI=3/EX=0.8600/morbid/RE=mTL_miRNA); MAF (EX=0.8595/morbid/RE=mTL_miRNA); LBR (EX=0.8586/morbid/RE=mTL_miRNA); SALL1 (EX=0.8565/morbid/RE=mTL_miRNA); MEGF8 (EX=0.8550/morbid/RE=mTL_miRNA); CEP57 (EX=0.8533/morbid/RE=mTL_miRNA); SLC12A6 (EX=0.8530/morbid/RE=mTL_miRNA); ATRX (HI=3/EX=0.8529/morbid/RE=mTL_miRNA); AHDC1 (HI=3/EX=0.8525/morbid/RE=mTL_miRNA); SETD1A (HI=3/EX=0.8525/morbid/RE=mTL_miRNA); NFIX (HI=3/EX=0.8525/morbid/RE=mTL_miRNA); PSAT1 (EX=0.8525/morbid/RE=mTL_miRNA); COLEC10 (EX=0.8525/morbid/RE=mTL_miRNA); SNX10 (EX=0.8525/morbid/RE=mTL_miRNA); ZBTB16 (EX=0.8508/morbid/RE=mTL_miRNA); SLC35A2 (HI=3/EX=0.8503/morbid/RE=mTL_miRNA); FREM2 (EX=0.8486/morbid/RE=mTL_miRNA); CCBE1 (EX=0.8484/morbid/RE=mTL_miRNA); SKI (EX=0.8478/morbid/RE=mTL_miRNA); STAT3 (EX=0.8476/morbid/RE=mTL_miRNA); EHMT1 (HI=3/EX=0.8476/morbid/RE=mTL_miRNA); TMEM67 (EX=0.8476/morbid/RE=mTL_miRNA); PIGT (EX=0.8475/morbid/RE=mTL_miRNA); IPO8 (EX=0.8466/morbid/RE=EA_enhancer+GH_enhancer+GH_promoter_enhancer); PTCH1 (HI=3/EX=0.8463/morbid/RE=mTL_miRNA); YY1 (EX=0.8454/morbid/RE=mTL_miRNA); RAB23 (PG=A/EX=0.8447/morbid/RE=mTL_miRNA); ATP7A (HI=3/EX=0.8446/morbid/RE=mTL_miRNA); ZNF699 (EX=0.8439/morbid/RE=mTL_miRNA); IGF2R (EX=0.8431/morbid/RE=mTL_miRNA); ORC4 (EX=0.8416/morbid/RE=mTL_miRNA); ORC6 (EX=0.8416/morbid/RE=mTL_miRNA); CDT1 (EX=0.8416/morbid/RE=mTL_miRNA); THRA (EX=0.8384/morbid/RE=mTL_miRNA); MED12 (EX=0.8372/morbid/RE=mTL_miRNA); B4GALT7 (EX=0.8359/morbid/RE=mTL_miRNA); SMAD4 (HI=3/EX=0.8357/morbid/RE=mTL_miRNA); RTTN (EX=0.8349/morbid/RE=mTL_miRNA); OTUD5 (EX=0.8335/morbid/RE=mTL_miRNA); GRHL2 (EX=0.8332/morbid/RE=mTL_miRNA); IRX5 (EX=0.8322/morbid/RE=mTL_miRNA); LMNB1 (TS=3/EX=0.8290/morbid/RE=mTL_miRNA); SETD2 (HI=3/EX=0.8288/morbid/RE=mTL_miRNA); NSD1 (HI=3/EX=0.8288/morbid/RE=mTL_miRNA); TMCO1 (EX=0.8286/morbid/RE=mTL_miRNA); CEP135 (EX=0.8280/morbid/RE=mTL_miRNA); GPC6 (EX=0.8264/morbid/RE=mTL_miRNA); PPP1CB (EX=0.8264/morbid/RE=mTL_miRNA); SON (HI=3/EX=0.8264/morbid/RE=mTL_miRNA); NFIA (HI=3/EX=0.8264/morbid/RE=mTL_miRNA); CNNM2 (EX=0.8263/morbid/RE=mTL_miRNA); GNAS (HI=3/PG=A/EX=0.8240/morbid/RE=mTL_miRNA); LRP6 (EX=0.8225/morbid/RE=mTL_miRNA); DDX3X (HI=3/EX=0.8221/morbid/RE=mTL_miRNA); NXN (EX=0.8212/morbid/RE=mTL_miRNA); TTC21B (EX=0.8204/morbid/RE=mTL_miRNA); CCNQ (EX=0.8202/morbid/RE=mTL_miRNA); PTEN (HI=3/PG=A/EX=0.8195/morbid/RE=mTL_miRNA); CREBBP (HI=3/EX=0.8187/morbid/RE=mTL_miRNA); TBX2 (EX=0.8166/morbid/RE=mTL_miRNA); AMER1 (EX=0.8152/morbid/RE=mTL_miRNA); GJA5 (EX=0.8151/morbid/RE=mTL_miRNA); GATA6 (HI=3/EX=0.8151/morbid/RE=mTL_miRNA); FLT4 (EX=0.8151/morbid/RE=mTL_miRNA); NKX2-5 (HI=3/EX=0.8151/morbid/RE=mTL_miRNA); JAG1 (HI=3/EX=0.8151/morbid/RE=mTL_miRNA); KCNJ2 (EX=0.8130/morbid/RE=mTL_miRNA); DYNC2H1 (EX=0.8110/morbid/RE=mTL_miRNA); PDE4D (PG=A/EX=0.8099/morbid/RE=mTL_miRNA); PPM1D (EX=0.8097/morbid/RE=mTL_miRNA); C12orf57 (EX=0.8087/morbid/RE=mTL_miRNA); MPLKIP (EX=0.8078/morbid/RE=mTL_miRNA); GTF2H5 (EX=0.8078/morbid/RE=mTL_miRNA); CTCF (HI=3/EX=0.8061/morbid/RE=mTL_miRNA); DNM1 (EX=0.8056/morbid/RE=mTL_miRNA); PCCB (EX=0.8056/morbid/RE=mTL_miRNA); DLG5 (EX=0.8056/morbid/RE=mTL_miRNA); ACTG1 (EX=0.8056/morbid/RE=mTL_miRNA); TONSL (EX=0.8052/morbid/RE=mTL_miRNA); KIAA0586 (EX=0.8043/morbid/RE=mTL_miRNA); ARHGAP31 (EX=0.8041/morbid/RE=mTL_miRNA); SMC1A (HI=3/EX=0.8038/morbid/RE=mTL_miRNA); PDGFRA (EX=0.8026/morbid/RE=mTL_miRNA); IGF2 (EX=0.8014/morbid/RE=mTL_miRNA); FLNA (HI=3/PG=A/EX=0.7996/morbid/RE=mTL_miRNA); RPS6KA3 (HI=3/EX=0.7990/morbid/RE=mTL_miRNA); AFF4 (EX=0.7987/morbid/RE=mTL_miRNA); NOTCH2 (EX=0.7972/morbid/RE=mTL_miRNA); PTCH2 (EX=0.7969/morbid/RE=mTL_miRNA); SC5D (EX=0.7963/morbid/RE=mTL_miRNA); TFAP2A (EX=0.7962/morbid/RE=mTL_miRNA); LAMA5 (EX=0.7954/morbid/RE=mTL_miRNA); TCOF1 (HI=3/EX=0.7950/morbid/RE=mTL_miRNA); CHSY1 (EX=0.7941/morbid/RE=mTL_miRNA); ASPH (EX=0.7941/morbid/RE=mTL_miRNA); PNPLA6 (EX=0.7939/morbid/RE=mTL_miRNA); HAAO (EX=0.7939/morbid/RE=mTL_miRNA); KYNU (EX=0.7939/morbid/RE=mTL_miRNA); FTO (EX=0.7936/morbid/RE=mTL_miRNA); BMP4 (EX=0.7936/morbid/RE=mTL_miRNA); DPYSL5 (EX=0.7856/morbid/RE=mTL_miRNA); MMACHC (EX=0.7849/morbid/RE=mTL_miRNA); CC2D2A (EX=0.7842/morbid/RE=mTL_miRNA); DLL4 (EX=0.7841/morbid/RE=mTL_miRNA); RB1 (HI=3/EX=0.7838/morbid/RE=mTL_miRNA); CBFB (EX=0.7836/morbid/RE=mTL_miRNA); GDF6 (EX=0.7833/morbid/RE=mTL_miRNA); TRAF3IP1 (EX=0.7831/morbid/RE=mTL_miRNA); SOX11 (HI=3/EX=0.7815/morbid/RE=mTL_miRNA); SHOX (EX=0.7812/morbid/RE=mTL_miRNA); LMNA (HI=3/PG=A/EX=0.7790/morbid/RE=mTL_miRNA); BGN (EX=0.7784/morbid/RE=mTL_miRNA); WNT5A (PG=A/EX=0.7772/morbid/RE=mTL_miRNA); CRIPT (EX=0.7772/morbid/RE=mTL_miRNA); SMC3 (EX=0.7762/morbid/RE=mTL_miRNA); FOXC1 (HI=3/EX=0.7752/morbid/RE=mTL_miRNA); TP63 (EX=0.7731/morbid/RE=mTL_miRNA); SLC26A2 (EX=0.7727/morbid/RE=mTL_miRNA); MBD4 (EX=0.7713/morbid/RE=mTL_miRNA); FLII (EX=0.7683/morbid/RE=mTL_miRNA); IQSEC2 (HI=3/EX=0.7683/morbid/RE=mTL_miRNA); SPEN (EX=0.7678/morbid/RE=mTL_miRNA); PRDM16 (EX=0.7678/morbid/RE=mTL_miRNA); PCYT1A (EX=0.7640/morbid/RE=mTL_miRNA); TMEM216 (EX=0.7629/morbid/RE=mTL_miRNA); PDE6D (EX=0.7629/morbid/RE=mTL_miRNA); EXTL3 (EX=0.7598/morbid/RE=mTL_miRNA); SLC2A1 (HI=3/EX=0.7598/morbid/RE=mTL_miRNA); PIK3CA (EX=0.7598/morbid/RE=mTL_miRNA); HRAS (EX=0.7598/morbid/RE=mTL_miRNA); PGM3 (EX=0.7598/morbid/RE=mTL_miRNA); MRPS16 (EX=0.7598/morbid/RE=mTL_miRNA); SEC23B (EX=0.7598/morbid/RE=mTL_miRNA); KRAS (PG=A/EX=0.7598/morbid/RE=mTL_miRNA); STX16 (EX=0.7598/morbid/RE=mTL_miRNA); LTBP2 (EX=0.7598/morbid/RE=mTL_miRNA); SDHC (HI=3/EX=0.7598/morbid/RE=mTL_miRNA); KLLN (EX=0.7598/morbid/RE=mTL_miRNA); PIGS (EX=0.7584/morbid/RE=mTL_miRNA); SH3PXD2B (EX=0.7582/morbid/RE=mTL_miRNA); CSGALNACT1 (EX=0.7576/morbid/RE=mTL_miRNA); ACVR1 (EX=0.7548/morbid/RE=mTL_miRNA); MORC2 (EX=0.7540/morbid/RE=mTL_miRNA); ARL6 (EX=0.7539/morbid/RE=mTL_miRNA); EOGT (EX=0.7538/morbid/RE=mTL_miRNA); NOTCH1 (EX=0.7538/morbid/RE=mTL_miRNA); RBPJ (EX=0.7538/morbid/RE=mTL_miRNA); RAC3 (EX=0.7533/morbid/RE=mTL_miRNA); HNRNPR (EX=0.7521/morbid/RE=mTL_miRNA); DVL3 (EX=0.7512/morbid/RE=mTL_miRNA); KDM5C (HI=3/EX=0.7492/morbid/RE=mTL_miRNA); SIL1 (EX=0.7492/morbid/RE=mTL_miRNA); DCPS (EX=0.7492/morbid/RE=mTL_miRNA); BBS5 (EX=0.7489/morbid/RE=mTL_miRNA); SRCAP (EX=0.7488/morbid/RE=mTL_miRNA); BNC2 (EX=0.7486/morbid/RE=mTL_miRNA); CBS (EX=0.7482/morbid/RE=mTL_miRNA); TRIP13 (EX=0.7473/morbid/RE=mTL_miRNA); SCNM1 (EX=0.7470/morbid/RE=mTL_miRNA); DPH2 (EX=0.7466/morbid/RE=mTL_miRNA); SLC10A7 (EX=0.7450/morbid/RE=mTL_miRNA); PHGDH (EX=0.7428/morbid/RE=mTL_miRNA); CAMK2G (EX=0.7421/morbid/RE=mTL_miRNA); CEP120 (EX=0.7420/morbid/RE=mTL_miRNA); TAF1 (EX=0.7414/morbid/RE=mTL_miRNA); ZMPSTE24 (EX=0.7414/morbid/RE=mTL_miRNA); MRAS (EX=0.7411/morbid/RE=mTL_miRNA); HGF (EX=0.7411/morbid/RE=mTL_miRNA); CHD7 (HI=3/EX=0.7411/morbid/RE=mTL_miRNA); SOS2 (EX=0.7411/morbid/RE=mTL_miRNA); NRAS (EX=0.7411/morbid/RE=mTL_miRNA); SOS1 (EX=0.7411/morbid/RE=mTL_miRNA); RRAS2 (EX=0.7411/morbid/RE=mTL_miRNA); WAC (HI=3/EX=0.7411/morbid/RE=mTL_miRNA); P4HB (EX=0.7405/morbid/RE=mTL_miRNA); CHD4 (EX=0.7395/morbid/RE=mTL_miRNA); STAMBP (EX=0.7373/morbid/RE=mTL_miRNA); COLGALT1 (EX=0.7371/morbid/RE=mTL_miRNA); SIN3A (HI=3/EX=0.7353/morbid/RE=mTL_miRNA); RHOA (EX=0.7349/morbid/RE=mTL_miRNA); KDSR (EX=0.7348/morbid/RE=mTL_miRNA); ZMIZ1 (EX=0.7343/morbid/RE=mTL_miRNA); EXT1 (HI=3/EX=0.7333/morbid/RE=mTL_miRNA); TRPS1 (HI=3/PG=A/EX=0.7333/morbid/RE=mTL_miRNA); ANKRD11 (HI=3/EX=0.7314/morbid/RE=mTL_miRNA); POC1A (EX=0.7303/morbid/RE=mTL_miRNA); LIFR (EX=0.7297/morbid/RE=mTL_miRNA); CEP55 (EX=0.7295/morbid/RE=mTL_miRNA); CAMSAP1 (EX=0.7284/morbid/RE=mTL_miRNA); DYNC2LI1 (EX=0.7277/morbid/RE=mTL_miRNA); PRKG2 (EX=0.7272/morbid/RE=mTL_miRNA); FZD2 (EX=0.7264/morbid/RE=mTL_miRNA); PKD1 (HI=3/EX=0.7262/morbid/RE=mTL_miRNA); PLXND1 (EX=0.7246/morbid/RE=mTL_miRNA); SMARCA2 (EX=0.7244/morbid/RE=mTL_miRNA); SHOC2 (EX=0.7230/morbid/RE=mTL_miRNA); LNPK (EX=0.7228/morbid/RE=mTL_miRNA); EXOSC2 (EX=0.7223/morbid/RE=mTL_miRNA); BBS1 (EX=0.7208/morbid/RE=mTL_miRNA); SETBP1 (HI=3/EX=0.7200/morbid/RE=mTL_miRNA); RLIM (EX=0.7187/morbid/RE=mTL_miRNA); CRTAP (EX=0.7184/morbid/RE=mTL_miRNA); TGFB2 (EX=0.7183/morbid/RE=mTL_miRNA); PSPH (EX=0.7182/morbid/RE=mTL_miRNA); ARID1A (HI=3/EX=0.7152/morbid/RE=mTL_miRNA); GPC4 (EX=0.7151/morbid/RE=mTL_miRNA); DNMT3B (EX=0.7134/morbid/RE=mTL_miRNA); FBXO28 (EX=0.7120/morbid/RE=mTL_miRNA); PIGO (EX=0.7118/morbid/RE=mTL_miRNA); FBXW11 (EX=0.7118/morbid/RE=mTL_miRNA); EVC (EX=0.7109/morbid/RE=mTL_miRNA); ACTB (EX=0.7062/morbid/RE=mTL_miRNA); KDM4B (EX=0.7060/morbid/RE=mTL_miRNA); ASXL1 (HI=3/EX=0.7052/morbid/RE=mTL_miRNA); UBR1 (EX=0.7045/morbid/RE=mTL_miRNA); MAPK1 (EX=0.7040/morbid/RE=mTL_miRNA); PCGF2 (EX=0.7024/morbid/RE=mTL_miRNA); PEX2 (EX=0.7009/morbid/RE=mTL_miRNA); PPP2R1A (EX=0.7005/morbid/RE=mTL_miRNA); HOXD12 (EX=1.0000/RE=mTL_miRNA); FURIN (EX=1.0000/RE=mTL_miRNA); GAS1 (EX=0.9795/RE=mTL_miRNA); RDH10 (EX=0.9739/RE=mTL_miRNA); DLX6 (EX=0.9342/RE=mTL_miRNA); SIK3 (EX=0.9139/RE=mTL_miRNA); EN1 (EX=0.8889/RE=mTL_miRNA); NUBP1 (EX=0.8850/RE=mTL_miRNA); FGFRL1 (EX=0.8816/RE=mTL_miRNA); SH2B1 (EX=0.8725/RE=mTL_miRNA); PFAS (EX=0.8586/RE=mTL_miRNA); FMN1 (EX=0.8549/RE=mTL_miRNA); EXOC8 (EX=0.8525/RE=mTL_miRNA); RXRA (EX=0.8484/RE=mTL_miRNA); CDC6 (EX=0.8416/RE=mTL_miRNA); TYRO3 (EX=0.8395/RE=mTL_miRNA); RPL10A (EX=0.8371/RE=mTL_miRNA); RREB1 (EX=0.8300/RE=mTL_miRNA); JMJD1C (EX=0.8300/RE=mTL_miRNA); COMT (EX=0.8300/RE=mTL_miRNA); SEC24C (EX=0.8300/RE=mTL_miRNA); ADAMTS5 (EX=0.8271/RE=mTL_miRNA); CDK20 (EX=0.8264/RE=mTL_miRNA); CRIM1 (EX=0.8250/RE=mTL_miRNA); DBN1 (EX=0.8212/RE=mTL_miRNA); RABL2B (EX=0.8203/RE=mTL_miRNA); RABL2A (EX=0.8203/RE=mTL_miRNA); FSTL1 (EX=0.8148/RE=mTL_miRNA); NUGGC (EX=0.8137/RE=mTL_miRNA); NGFR (EX=0.8137/RE=mTL_miRNA); PROSER2 (EX=0.8137/RE=mTL_miRNA); ZC3H8 (EX=0.8137/RE=mTL_miRNA); HUNK (EX=0.8137/RE=mTL_miRNA); CYP51A1 (EX=0.8122/RE=mTL_miRNA); PDZK1 (EX=0.8079/RE=mTL_miRNA); HS6ST1 (EX=0.8064/RE=mTL_miRNA); SMG5 (EX=0.8056/RE=mTL_miRNA); CEP97 (EX=0.8056/RE=mTL_miRNA); XPO1 (EX=0.8056/RE=mTL_miRNA); SNAI2 (EX=0.8056/RE=mTL_miRNA); GABPA (EX=0.8056/RE=mTL_miRNA); APBB2 (EX=0.8056/RE=mTL_miRNA); EIF3C (EX=0.8037/RE=mTL_miRNA); QSOX1 (EX=0.8024/RE=mTL_miRNA); PCGF3 (EX=0.7995/RE=mTL_miRNA); WNT9A (EX=0.7983/RE=mTL_miRNA); CLEC16A (EX=0.7974/RE=mTL_miRNA); DAD1 (EX=0.7941/RE=mTL_miRNA); DNAJC24 (EX=0.7941/RE=mTL_miRNA); ETV5 (EX=0.7941/RE=mTL_miRNA); HIVEP3 (EX=0.7941/RE=mTL_miRNA); XPO5 (EX=0.7940/RE=mTL_miRNA); ZC3H4 (EX=0.7940/RE=mTL_miRNA); SOCS7 (EX=0.7937/RE=mTL_miRNA); BMP7 (EX=0.7924/RE=mTL_miRNA); TMEM132A (EX=0.7917/RE=mTL_miRNA); CWC22 (EX=0.7888/RE=mTL_miRNA); SNX3 (EX=0.7883/RE=mTL_miRNA); MYO10 (EX=0.7883/RE=mTL_miRNA); PIAS2 (EX=0.7869/RE=mTL_miRNA); RAB34 (EX=0.7862/RE=mTL_miRNA); ZC3H11A (EX=0.7806/RE=mTL_miRNA); EPB41L1 (EX=0.7709/RE=mTL_miRNA); RBBP4 (EX=0.7704/RE=mTL_miRNA); RECK (EX=0.7694/RE=mTL_miRNA); LUZP1 (EX=0.7678/RE=mTL_miRNA); UBE4B (EX=0.7678/RE=mTL_miRNA); PDPN (EX=0.7678/RE=mTL_miRNA); ANXA1 (EX=0.7657/RE=mTL_miRNA); RARA (EX=0.7652/RE=mTL_miRNA); RBM22 (EX=0.7635/RE=mTL_miRNA); CASP3 (EX=0.7618/RE=mTL_miRNA); RDH11 (EX=0.7598/RE=mTL_miRNA); USF3 (EX=0.7598/RE=mTL_miRNA); GALK2 (EX=0.7536/RE=mTL_miRNA); TFPI (EX=0.7479/RE=mTL_miRNA); VEGFA (EX=0.7459/RE=mTL_miRNA); CXXC5 (EX=0.7435/RE=mTL_miRNA); SEMA3E (EX=0.7411/RE=mTL_miRNA); SFN (EX=0.7408/RE=mTL_miRNA); BTBD7 (EX=0.7381/RE=mTL_miRNA); REV3L (EX=0.7246/RE=mTL_miRNA); FIGN (EX=0.7167/RE=mTL_miRNA); PROM2 (EX=0.7139/RE=mTL_miRNA); TMEM127 (HI=3/EX=0.7085/RE=mTL_miRNA); NIPA1 (morbid/RE=mTL_miRNA); MCC (morbid/RE=mTL_miRNA); CD59 (morbid/RE=mTL_miRNA); DLG3 (morbid/RE=mTL_miRNA); PIK3CG (morbid/RE=mTL_miRNA); VPS53 (morbid/RE=mTL_miRNA); FLVCR1 (morbid/RE=mTL_miRNA); TMEM138 (morbid/RE=mTL_miRNA); CALM2 (morbid/RE=mTL_miRNA); DICER1 (HI=3/morbid/RE=mTL_miRNA); MC2R (morbid/RE=mTL_miRNA); KCNC3 (morbid/RE=mTL_miRNA); ACTN1 (morbid/RE=mTL_miRNA); PRDX3 (morbid/RE=mTL_miRNA); PDZD8 (morbid/RE=mTL_miRNA); KIAA1549 (morbid/RE=mTL_miRNA); BMPR1A (HI=3/morbid/RE=mTL_miRNA); PIKFYVE (morbid/RE=mTL_miRNA); THG1L (morbid/RE=mTL_miRNA); RORC (morbid/RE=mTL_miRNA); SPTLC2 (morbid/RE=mTL_miRNA); TRAPPC9 (morbid/RE=mTL_miRNA); HPRT1 (HI=3/morbid/RE=mTL_miRNA); SLC7A14 (morbid/RE=mTL_miRNA); WNK1 (morbid/RE=mTL_miRNA); DDX6 (morbid/RE=mTL_miRNA); HACE1 (morbid/RE=mTL_miRNA); GLRX5 (morbid/RE=mTL_miRNA); SLC31A1 (morbid/RE=mTL_miRNA); FOXP1 (HI=3/morbid/RE=mTL_miRNA); NUBPL (morbid/RE=mTL_miRNA); BAP1 (HI=3/morbid/RE=mTL_miRNA); WDR4 (morbid/RE=mTL_miRNA); ABL1 (morbid/RE=mTL_miRNA); GLUL (morbid/RE=mTL_miRNA); NEDD4L (morbid/RE=mTL_miRNA); B2M (morbid/RE=mTL_miRNA); DOCK11 (morbid/RE=mTL_miRNA); EIF2B2 (morbid/RE=mTL_miRNA); FUS (morbid/RE=mTL_miRNA); RDX (morbid/RE=mTL_miRNA); SPTAN1 (morbid/RE=mTL_miRNA); AMFR (morbid/RE=mTL_miRNA); CELF2 (morbid/RE=mTL_miRNA); FAM83H (morbid/RE=mTL_miRNA); RASA1 (HI=3/morbid/RE=mTL_miRNA); RTEL1 (morbid/RE=mTL_miRNA); KCNN3 (morbid/RE=mTL_miRNA); TBC1D20 (morbid/RE=mTL_miRNA); PTPRJ (morbid/RE=mTL_miRNA); MRE11 (morbid/RE=mTL_miRNA); ALAD (morbid/RE=mTL_miRNA); PI4KB (morbid/RE=mTL_miRNA); TTLL5 (morbid/RE=mTL_miRNA); IMPG1 (morbid/RE=mTL_miRNA); TMX2 (morbid/RE=mTL_miRNA); CACNA1C (morbid/RE=mTL_miRNA); MPC1 (morbid/RE=mTL_miRNA); ABCD1 (HI=3/morbid/RE=mTL_miRNA); CA2 (morbid/RE=mTL_miRNA); HPS1 (morbid/RE=mTL_miRNA); GABRB2 (morbid/RE=mTL_miRNA); SMPD1 (morbid/RE=mTL_miRNA); SASH1 (morbid/RE=mTL_miRNA); ELOVL5 (morbid/RE=mTL_miRNA); CLDN1 (morbid/RE=mTL_miRNA); TMEM94 (morbid/RE=mTL_miRNA); RNF168 (morbid/RE=mTL_miRNA); AIP (morbid/RE=mTL_miRNA); IL10RB (morbid/RE=mTL_miRNA); POLR1B (morbid/RE=mTL_miRNA); FLCN (HI=3/morbid/RE=mTL_miRNA); AR (HI=3/morbid/RE=mTL_miRNA); BVES (morbid/RE=mTL_miRNA); GRK1 (morbid/RE=mTL_miRNA); PQBP1 (HI=3/morbid/RE=mTL_miRNA); TBX18 (morbid/RE=mTL_miRNA); DHDDS (morbid/RE=mTL_miRNA); PTGIS (morbid/RE=mTL_miRNA); EGFR (morbid/RE=mTL_miRNA); MLH1 (HI=3/morbid/RE=mTL_miRNA); NNT (morbid/RE=mTL_miRNA); ERLIN1 (morbid/RE=mTL_miRNA); XYLT2 (morbid/RE=mTL_miRNA); FGF5 (morbid/RE=mTL_miRNA); SYNE2 (morbid/RE=mTL_miRNA); CDHR1 (morbid/RE=mTL_miRNA); NDST1 (morbid/RE=mTL_miRNA); NPRL3 (HI=3/morbid/RE=mTL_miRNA); PIGW (morbid/RE=mTL_miRNA); UROS (morbid/RE=mTL_miRNA); VPS37A (morbid/RE=mTL_miRNA); GEMIN4 (morbid/RE=mTL_miRNA); TMEM43 (morbid/RE=mTL_miRNA); NR2F2 (morbid/RE=mTL_miRNA); CASK (morbid/RE=mTL_miRNA); MAP2K2 (morbid/RE=mTL_miRNA); GNAI2 (morbid/RE=mTL_miRNA); CEP104 (morbid/RE=mTL_miRNA); PROKR2 (morbid/RE=mTL_miRNA); PLXNA1 (morbid/RE=mTL_miRNA); PTPA (morbid/RE=mTL_miRNA); MRPL44 (morbid/RE=mTL_miRNA); HCCS (morbid/RE=mTL_miRNA); CAPN15 (morbid/RE=mTL_miRNA); PSAP (morbid/RE=mTL_miRNA); TNFRSF10B (morbid/RE=mTL_miRNA); KLHL15 (morbid/RE=mTL_miRNA); KLK4 (morbid/RE=mTL_miRNA); GFER (morbid/RE=mTL_miRNA); BCKDK (morbid/RE=mTL_miRNA); SEMA6B (morbid/RE=mTL_miRNA); SF3B1 (morbid/RE=mTL_miRNA); TRMT5 (morbid/RE=mTL_miRNA); TPM2 (morbid/RE=mTL_miRNA); PRKACA (morbid/RE=mTL_miRNA); ELP2 (morbid/RE=mTL_miRNA); STX1B (morbid/RE=mTL_miRNA); COPB1 (morbid/RE=mTL_miRNA); HTR1A (morbid/RE=mTL_miRNA); DSTYK (morbid/RE=mTL_miRNA); ALDH6A1 (morbid/RE=mTL_miRNA); LIAS (morbid/RE=mTL_miRNA); CHRNB1 (morbid/RE=mTL_miRNA); C7 (morbid/RE=mTL_miRNA); KPNA3 (morbid/RE=mTL_miRNA); ARPC1B (morbid/RE=mTL_miRNA); TRIOBP (morbid/RE=mTL_miRNA); CAMK2A (morbid/RE=mTL_miRNA); TXNL4A (morbid/RE=mTL_miRNA); ARL13B (morbid/RE=mTL_miRNA); MAMLD1 (morbid/RE=mTL_miRNA); RPS17 (HI=3/morbid/RE=mTL_miRNA); MCM4 (morbid/RE=mTL_miRNA); ZFYVE27 (morbid/RE=mTL_miRNA); CTNS (morbid/RE=mTL_miRNA); CAD (morbid/RE=mTL_miRNA); MAG (morbid/RE=mTL_miRNA); RHAG (morbid/RE=mTL_miRNA); KANK2 (morbid/RE=mTL_miRNA); UQCRB (morbid/RE=mTL_miRNA); C19orf12 (morbid/RE=mTL_miRNA); TRDN (morbid/RE=mTL_miRNA); TUFT1 (morbid/RE=mTL_miRNA); GABRG2 (morbid/RE=mTL_miRNA); GLMN (HI=3/morbid/RE=mTL_miRNA); CLN6 (morbid/RE=mTL_miRNA); CNGB1 (morbid/RE=mTL_miRNA); PRKN (morbid/RE=mTL_miRNA); LIPC (morbid/RE=mTL_miRNA); PAF1 (morbid/RE=mTL_miRNA); PNPT1 (morbid/RE=mTL_miRNA); ATXN1 (morbid/RE=mTL_miRNA); PITX3 (morbid/RE=mTL_miRNA); RAI1 (HI=3/morbid/RE=mTL_miRNA); DNMT1 (morbid/RE=mTL_miRNA); NDUFA9 (morbid/RE=mTL_miRNA); DST (morbid/RE=mTL_miRNA); RPIA (morbid/RE=mTL_miRNA); MPI (morbid/RE=mTL_miRNA); ACBD5 (morbid/RE=mTL_miRNA); PLAA (morbid/RE=mTL_miRNA); PIK3C2A (morbid/RE=mTL_miRNA); ANG (morbid/RE=mTL_miRNA); LRP2 (morbid/RE=mTL_miRNA); HNRNPC (morbid/RE=mTL_miRNA); SMC5 (morbid/RE=mTL_miRNA); CCDC47 (morbid/RE=mTL_miRNA); RSPO1 (morbid/RE=mTL_miRNA); AP2M1 (morbid/RE=mTL_miRNA); WDR73 (morbid/RE=mTL_miRNA); CLPB (morbid/RE=mTL_miRNA); PGAP1 (morbid/RE=mTL_miRNA); TCN2 (morbid/RE=mTL_miRNA); PTPRC (morbid/RE=mTL_miRNA); TBP (morbid/RE=mTL_miRNA); CD96 (morbid/RE=mTL_miRNA); RSPH3 (morbid/RE=mTL_miRNA); NR3C2 (HI=3/morbid/RE=mTL_miRNA); ATXN3 (morbid/RE=mTL_miRNA); PHF21A (HI=3/morbid/RE=mTL_miRNA); CEP250 (morbid/RE=mTL_miRNA); CPLX1 (morbid/RE=mTL_miRNA); STX3 (morbid/RE=mTL_miRNA); DOHH (morbid/RE=mTL_miRNA); CEP85L (morbid/RE=mTL_miRNA); SPRTN (morbid/RE=mTL_miRNA); PDP1 (morbid/RE=mTL_miRNA); IKZF5 (morbid/RE=mTL_miRNA); KIF11 (HI=3/morbid/RE=mTL_miRNA); CYP1B1 (morbid/RE=mTL_miRNA); ZFYVE26 (morbid/RE=mTL_miRNA); UBR7 (morbid/RE=mTL_miRNA); SLC27A4 (morbid/RE=mTL_miRNA); ZSWIM6 (morbid/RE=mTL_miRNA); TAB2 (morbid/RE=mTL_miRNA); ALB (morbid/RE=mTL_miRNA); STUB1 (morbid/RE=mTL_miRNA); FNIP1 (morbid/RE=mTL_miRNA); KIF23 (morbid/RE=mTL_miRNA); CTNNB1 (HI=3/morbid/RE=mTL_miRNA); MED13 (morbid/RE=mTL_miRNA); RNF170 (morbid/RE=mTL_miRNA); MCM9 (morbid/RE=mTL_miRNA); ELN (HI=3/morbid/RE=mTL_miRNA); TNPO3 (morbid/RE=mTL_miRNA); SDHAF2 (HI=3/morbid/RE=mTL_miRNA); GPR156 (morbid/RE=mTL_miRNA); ATP6V1A (morbid/RE=mTL_miRNA); FYCO1 (morbid/RE=mTL_miRNA); PPP1R15B (morbid/RE=mTL_miRNA); APC (HI=3/morbid/RE=mTL_miRNA); NACC1 (morbid/RE=mTL_miRNA); REL (morbid/RE=mTL_miRNA); ELAC2 (morbid/RE=mTL_miRNA); WRN (morbid/RE=mTL_miRNA); MYO1C (morbid/RE=mTL_miRNA); FSIP2 (morbid/RE=mTL_miRNA); GOLGA2 (morbid/RE=mTL_miRNA); SMS (HI=3/morbid/RE=mTL_miRNA); SIAH1 (morbid/RE=mTL_miRNA); PIEZO1 (morbid/RE=mTL_miRNA); ERCC6L2 (morbid/RE=mTL_miRNA); FXN (morbid/RE=mTL_miRNA); ABCB7 (morbid/RE=mTL_miRNA); ADA2 (morbid/RE=mTL_miRNA); ARF1 (morbid/RE=mTL_miRNA); ASPA (morbid/RE=mTL_miRNA); BLOC1S3 (morbid/RE=mTL_miRNA); ANGPTL3 (morbid/RE=mTL_miRNA); ATP13A2 (morbid/RE=mTL_miRNA); SYNE1 (morbid/RE=mTL_miRNA); EIF4A3 (morbid/RE=mTL_miRNA); GNB5 (morbid/RE=mTL_miRNA); DNASE2 (morbid/RE=mTL_miRNA); GNA11 (morbid/RE=mTL_miRNA); VPS4A (morbid/RE=mTL_miRNA); LAMTOR2 (morbid/RE=mTL_miRNA); MKRN3 (morbid/RE=mTL_miRNA); TACO1 (morbid/RE=mTL_miRNA); CDH2 (morbid/RE=mTL_miRNA); ALG1 (morbid/RE=mTL_miRNA); U2AF2 (morbid/RE=mTL_miRNA); CYB561 (morbid/RE=mTL_miRNA); ELOVL4 (morbid/RE=mTL_miRNA); TIA1 (morbid/RE=mTL_miRNA); RNF2 (morbid/RE=mTL_miRNA); GCDH (morbid/RE=mTL_miRNA); ELOVL1 (morbid/RE=mTL_miRNA); STIM1 (morbid/RE=mTL_miRNA); CA8 (morbid/RE=mTL_miRNA); PNP (morbid/RE=mTL_miRNA); MARVELD2 (morbid/RE=mTL_miRNA); TNRC6B (HI=3/morbid/RE=mTL_miRNA); NDUFS3 (morbid/RE=mTL_miRNA); ZNF526 (morbid/RE=mTL_miRNA); PTPN14 (morbid/RE=mTL_miRNA); LDHD (morbid/RE=mTL_miRNA); PLS1 (morbid/RE=mTL_miRNA); APTX (morbid/RE=mTL_miRNA); EIF4A2 (morbid/RE=mTL_miRNA); HEXA (morbid/RE=mTL_miRNA); CELSR1 (morbid/RE=mTL_miRNA); OAT (morbid/RE=mTL_miRNA); DNMT3A (morbid/RE=mTL_miRNA); MIB1 (morbid/RE=mTL_miRNA); SEC23A (morbid/RE=mTL_miRNA); DDR2 (morbid/RE=mTL_miRNA); PLA2G4A (morbid/RE=mTL_miRNA); UBTF (morbid/RE=mTL_miRNA); IMP3 (morbid/RE=mTL_miRNA); KCTD7 (morbid/RE=mTL_miRNA); ETV6 (HI=3/morbid/RE=mTL_miRNA); NHS (HI=3/morbid/RE=mTL_miRNA); SLC25A46 (morbid/RE=mTL_miRNA); PSD (morbid/RE=mTL_miRNA); REST (morbid/RE=mTL_miRNA); GPIHBP1 (morbid/RE=mTL_miRNA); AMACR (morbid/RE=mTL_miRNA); FOLR1 (morbid/RE=mTL_miRNA); TET3 (morbid/RE=mTL_miRNA); TBC1D24 (morbid/RE=mTL_miRNA); PPIP5K2 (morbid/RE=mTL_miRNA); FLG2 (morbid/RE=mTL_miRNA); USH1G (morbid/RE=mTL_miRNA); FANCA (morbid/RE=mTL_miRNA); PLEKHG5 (morbid/RE=mTL_miRNA); JPH2 (morbid/RE=mTL_miRNA); APOC3 (morbid/RE=mTL_miRNA); CD3G (morbid/RE=mTL_miRNA); XRCC2 (morbid/RE=mTL_miRNA); GAN (morbid/RE=mTL_miRNA); EZH1 (morbid/RE=mTL_miRNA); CISD2 (morbid/RE=mTL_miRNA); GCM2 (morbid/RE=mTL_miRNA); ABCC6 (morbid/RE=mTL_miRNA); EPB41 (morbid/RE=mTL_miRNA); CLEC7A (morbid/RE=mTL_miRNA); CPS1 (morbid/RE=mTL_miRNA); STARD7 (morbid/RE=mTL_miRNA); PCK1 (morbid/RE=mTL_miRNA); TCF3 (morbid/RE=mTL_miRNA); ANKRD17 (HI=3/morbid/RE=mTL_miRNA); CREB1 (morbid/RE=mTL_miRNA); FSHB (morbid/RE=mTL_miRNA); PANK2 (morbid/RE=mTL_miRNA); SASH3 (morbid/RE=mTL_miRNA); KCTD1 (morbid/RE=mTL_miRNA); JARID2 (morbid/RE=mTL_miRNA); BTD (morbid/RE=mTL_miRNA); SPRED1 (HI=3/morbid/RE=mTL_miRNA); PDHB (morbid/RE=mTL_miRNA); CTBP1 (morbid/RE=mTL_miRNA); PPFIBP1 (morbid/RE=mTL_miRNA); CASP8 (morbid/RE=mTL_miRNA); EXPH5 (morbid/RE=mTL_miRNA); GANAB (morbid/RE=mTL_miRNA); AGO1 (morbid/RE=mTL_miRNA); MYH11 (morbid/RE=mTL_miRNA); LDHA (morbid/RE=mTL_miRNA); JAK2 (morbid/RE=mTL_miRNA); ROBO4 (morbid/RE=mTL_miRNA); BCL2 (morbid/RE=mTL_miRNA); SPI1 (morbid/RE=mTL_miRNA); PRKCD (morbid/RE=mTL_miRNA); PLOD2 (morbid/RE=mTL_miRNA); RAD50 (morbid/RE=mTL_miRNA); TBX20 (morbid/RE=mTL_miRNA); ATP9A (morbid/RE=mTL_miRNA); KCNH2 (HI=3/morbid/RE=mTL_miRNA); BCL10 (morbid/RE=mTL_miRNA); ZBTB20 (morbid/RE=mTL_miRNA); TTN (HI=3/morbid/RE=mTL_miRNA); AP1S1 (morbid/RE=mTL_miRNA); SPTA1 (morbid/RE=mTL_miRNA); RAC1 (morbid/RE=mTL_miRNA); LAMC3 (morbid/RE=mTL_miRNA); GCH1 (HI=3/morbid/RE=mTL_miRNA); KCNJ6 (morbid/RE=mTL_miRNA); TENM4 (morbid/RE=mTL_miRNA); PHIP (HI=3/morbid/RE=mTL_miRNA); TUBB (morbid/RE=mTL_miRNA); TRAPPC2L (morbid/RE=mTL_miRNA); MACF1 (morbid/RE=mTL_miRNA); FARSB (morbid/RE=mTL_miRNA); NMNAT1 (morbid/RE=mTL_miRNA); ARHGDIA (morbid/RE=mTL_miRNA); TBCK (morbid/RE=mTL_miRNA); YAP1 (morbid/RE=mTL_miRNA); USP7 (morbid/RE=mTL_miRNA); STS (HI=3/morbid/RE=mTL_miRNA); PEX16 (morbid/RE=mTL_miRNA); ATP13A3 (morbid/RE=mTL_miRNA); TUBG1 (morbid/RE=mTL_miRNA); KLC2 (morbid/RE=mTL_miRNA); SPTLC1 (morbid/RE=mTL_miRNA); ACTA1 (morbid/RE=mTL_miRNA); SMAD2 (morbid/RE=mTL_miRNA); SIK1 (morbid/RE=mTL_miRNA); IVD (morbid/RE=mTL_miRNA); G6PD (morbid/RE=mTL_miRNA); VWA1 (morbid/RE=mTL_miRNA); KMT2C (HI=3/morbid/RE=mTL_miRNA); DNAJB6 (morbid/RE=mTL_miRNA); COQ7 (morbid/RE=mTL_miRNA); DBT (morbid/RE=mTL_miRNA); PRPF4 (morbid/RE=mTL_miRNA); PCSK9 (morbid/RE=mTL_miRNA); MAPK8IP3 (morbid/RE=mTL_miRNA); PRNP (morbid/RE=mTL_miRNA); MEI1 (morbid/RE=mTL_miRNA); QRSL1 (morbid/RE=mTL_miRNA); EWSR1 (morbid/RE=mTL_miRNA); WDR62 (morbid/RE=mTL_miRNA); STX11 (morbid/RE=mTL_miRNA); ALDH1A3 (morbid/RE=mTL_miRNA); TNPO2 (morbid/RE=mTL_miRNA); KCNJ10 (morbid/RE=mTL_miRNA); ITCH (morbid/RE=mTL_miRNA); IL1RAPL1 (HI=3/morbid/RE=mTL_miRNA); SLC6A17 (morbid/RE=mTL_miRNA); EIF2S3 (morbid/RE=mTL_miRNA); CTHRC1 (morbid/RE=mTL_miRNA); TPM4 (morbid/RE=mTL_miRNA); MOCS2 (morbid/RE=mTL_miRNA); TACR3 (morbid/RE=mTL_miRNA); CERKL (morbid/RE=mTL_miRNA); SMO (morbid/RE=mTL_miRNA); ACAD8 (morbid/RE=mTL_miRNA); IGSF1 (morbid/RE=mTL_miRNA); RGS9BP (morbid/RE=mTL_miRNA); ATP8A2 (morbid/RE=mTL_miRNA); CACNA1A (HI=3/morbid/RE=mTL_miRNA); KCNB1 (morbid/RE=mTL_miRNA); RPL5 (morbid/RE=mTL_miRNA); SPTBN2 (morbid/RE=mTL_miRNA); PNPO (morbid/RE=mTL_miRNA); EARS2 (morbid/RE=mTL_miRNA); THAP1 (morbid/RE=mTL_miRNA); CASP10 (morbid/RE=mTL_miRNA); RSRC1 (morbid/RE=mTL_miRNA); PANX1 (morbid/RE=mTL_miRNA); COL13A1 (morbid/RE=mTL_miRNA); AP4E1 (morbid/RE=mTL_miRNA); PLCE1 (morbid/RE=mTL_miRNA); MECP2 (HI=3/morbid/RE=mTL_miRNA); CHRM3 (morbid/RE=mTL_miRNA); VCL (morbid/RE=mTL_miRNA); CLN8 (morbid/RE=mTL_miRNA); MED12L (morbid/RE=mTL_miRNA); SLC4A1 (morbid/RE=mTL_miRNA); NTN1 (morbid/RE=mTL_miRNA); CHEK2 (HI=3/morbid/RE=mTL_miRNA); OGDH (morbid/RE=mTL_miRNA); SPAST (HI=3/morbid/RE=mTL_miRNA); SYK (morbid/RE=mTL_miRNA); CHRDL1 (HI=3/morbid/RE=mTL_miRNA); TUFM (morbid/RE=mTL_miRNA); PIGM (morbid/RE=mTL_miRNA); PDE11A (morbid/RE=mTL_miRNA); MPL (morbid/RE=mTL_miRNA); ATM (HI=3/morbid/RE=mTL_miRNA); FRMD5 (morbid/RE=mTL_miRNA); SLC35A1 (morbid/RE=mTL_miRNA); RPL13 (morbid/RE=mTL_miRNA); CNNM4 (morbid/RE=mTL_miRNA); SDHAF1 (morbid/RE=mTL_miRNA); OPA3 (morbid/RE=mTL_miRNA); MEF2C (HI=3/morbid/RE=mTL_miRNA); TMEM106B (morbid/RE=mTL_miRNA); BRD4 (morbid/RE=mTL_miRNA); TAF6 (morbid/RE=mTL_miRNA); SCNN1G (morbid/RE=mTL_miRNA); PKHD1 (morbid/RE=mTL_miRNA); ZNFX1 (morbid/RE=mTL_miRNA); GALK1 (morbid/RE=mTL_miRNA); EZH2 (morbid/RE=mTL_miRNA); FANCD2 (morbid/RE=mTL_miRNA); PEX11B (morbid/RE=mTL_miRNA); SCN11A (morbid/RE=mTL_miRNA); IREB2 (morbid/RE=mTL_miRNA); POLR3K (morbid/RE=mTL_miRNA); MSN (morbid/RE=mTL_miRNA); KCNH1 (morbid/RE=mTL_miRNA); RARB (morbid/RE=mTL_miRNA); RNF125 (morbid/RE=mTL_miRNA); SLC33A1 (morbid/RE=mTL_miRNA); TSPYL1 (morbid/RE=mTL_miRNA); CYB5A (morbid/RE=mTL_miRNA); H6PD (morbid/RE=mTL_miRNA); CCNF (morbid/RE=mTL_miRNA); CD3E (morbid/RE=mTL_miRNA); SCN3B (morbid/RE=mTL_miRNA); NDUFA11 (morbid/RE=mTL_miRNA); RBM10 (morbid/RE=mTL_miRNA); DCLRE1C (morbid/RE=mTL_miRNA); ERCC1 (morbid/RE=mTL_miRNA); PAX8 (morbid/RE=mTL_miRNA); TIMM8A (HI=3/morbid/RE=mTL_miRNA); GALNT3 (morbid/RE=mTL_miRNA); KCND3 (morbid/RE=mTL_miRNA); LRRC32 (morbid/RE=mTL_miRNA); GGCX (morbid/RE=mTL_miRNA); SFTPB (morbid/RE=mTL_miRNA); CAVIN1 (morbid/RE=mTL_miRNA); GGPS1 (morbid/RE=mTL_miRNA); ATIC (morbid/RE=mTL_miRNA); RPL3L (morbid/RE=mTL_miRNA); POLR2A (morbid/RE=mTL_miRNA); CKAP2L (morbid/RE=mTL_miRNA); SLC22A12 (morbid/RE=mTL_miRNA); FBXL3 (morbid/RE=mTL_miRNA); TAOK1 (HI=3/morbid/RE=mTL_miRNA); SAMD12 (morbid/RE=mTL_miRNA); HSPD1 (morbid/RE=mTL_miRNA); SRD5A3 (morbid/RE=mTL_miRNA); MYO3A (morbid/RE=mTL_miRNA); SPTBN1 (morbid/RE=mTL_miRNA); HAVCR2 (morbid/RE=mTL_miRNA); ZNF292 (morbid/RE=mTL_miRNA); MCFD2 (morbid/RE=mTL_miRNA); CABP4 (morbid/RE=mTL_miRNA); VANGL1 (morbid/RE=mTL_miRNA); CFAP65 (morbid/RE=mTL_miRNA); LCA5 (morbid/RE=mTL_miRNA); PJVK (morbid/RE=mTL_miRNA); IKBKG (HI=3/morbid/RE=mTL_miRNA); SASS6 (morbid/RE=mTL_miRNA); ZBTB24 (morbid/RE=mTL_miRNA); SCD (morbid/RE=mTL_miRNA); USB1 (morbid/RE=mTL_miRNA); SOX6 (morbid/RE=mTL_miRNA); ATP1A2 (morbid/RE=mTL_miRNA); DHTKD1 (morbid/RE=mTL_miRNA); C1S (morbid/RE=mTL_miRNA); STK4 (morbid/RE=mTL_miRNA); PDCD10 (morbid/RE=mTL_miRNA); XPC (morbid/RE=mTL_miRNA); MYO9A (morbid/RE=mTL_miRNA); GNB1 (morbid/RE=mTL_miRNA); PLS3 (morbid/RE=mTL_miRNA); TIAM1 (morbid/RE=mTL_miRNA); ATP1A1 (morbid/RE=mTL_miRNA); ACVR2B (morbid/RE=mTL_miRNA); TARDBP (morbid/RE=mTL_miRNA); GRIN2B (HI=3/morbid/RE=mTL_miRNA); RAB33B (morbid/RE=mTL_miRNA); CST3 (morbid/RE=mTL_miRNA); SEC61A1 (morbid/RE=mTL_miRNA); TPI1 (morbid/RE=mTL_miRNA); ADH5 (morbid/RE=mTL_miRNA); TBC1D2B (morbid/RE=mTL_miRNA); UQCRQ (morbid/RE=mTL_miRNA); POLG (morbid/RE=mTL_miRNA); BCR (morbid/RE=mTL_miRNA); MSH5 (morbid/RE=mTL_miRNA); LYRM7 (morbid/RE=mTL_miRNA); PAK1 (morbid/RE=mTL_miRNA); LAMC2 (morbid/RE=mTL_miRNA); HINT1 (morbid/RE=mTL_miRNA); EDN1 (morbid/RE=mTL_miRNA); CFL2 (morbid/RE=mTL_miRNA); FTH1 (morbid/RE=mTL_miRNA); SERPINH1 (morbid/RE=mTL_miRNA); UBA2 (morbid/RE=mTL_miRNA); SCN2B (morbid/RE=mTL_miRNA); DMGDH (morbid/RE=mTL_miRNA); MYC (morbid/RE=mTL_miRNA); PRR12 (HI=3/morbid/RE=mTL_miRNA); ATP6V1B2 (morbid/RE=mTL_miRNA); PNPLA2 (morbid/RE=mTL_miRNA); MXI1 (morbid/RE=mTL_miRNA); DNMBP (morbid/RE=mTL_miRNA); CTNNA1 (HI=3/morbid/RE=mTL_miRNA); FKRP (morbid/RE=mTL_miRNA); EXOC7 (morbid/RE=mTL_miRNA); KY (morbid/RE=mTL_miRNA); CRX (morbid/RE=mTL_miRNA); PPP2CA (morbid/RE=mTL_miRNA); ACADVL (morbid/RE=mTL_miRNA); SLC5A5 (morbid/RE=mTL_miRNA); ENTPD1 (morbid/RE=mTL_miRNA); IL21R (morbid/RE=mTL_miRNA); MBD5 (morbid/RE=mTL_miRNA); RPS14 (morbid/RE=mTL_miRNA); NEUROD1 (morbid/RE=mTL_miRNA); AMD1 (morbid/RE=mTL_miRNA); AGO2 (morbid/RE=mTL_miRNA); MAP1B (morbid/RE=mTL_miRNA); SLC16A1 (morbid/RE=mTL_miRNA); RPL21 (morbid/RE=mTL_miRNA); ATCAY (morbid/RE=mTL_miRNA); RHBDF2 (morbid/RE=mTL_miRNA); VIM (morbid/RE=mTL_miRNA); ZBTB18 (HI=3/morbid/RE=mTL_miRNA); CHMP2B (morbid/RE=mTL_miRNA); SFTPA1 (morbid/RE=mTL_miRNA); DNAL1 (morbid/RE=mTL_miRNA); CD2AP (morbid/RE=mTL_miRNA); FIG4 (morbid/RE=mTL_miRNA); ADAMTS18 (morbid/RE=mTL_miRNA); GNAI3 (morbid/RE=mTL_miRNA); TMEM218 (morbid/RE=mTL_miRNA); OXGR1 (morbid/RE=mTL_miRNA); SBF1 (morbid/RE=mTL_miRNA); PLEC (morbid/RE=mTL_miRNA); RMND1 (morbid/RE=mTL_miRNA); TMPRSS15 (morbid/RE=mTL_miRNA); TRIM71 (morbid/RE=mTL_miRNA); DEGS1 (morbid/RE=mTL_miRNA); XIAP (HI=3/morbid/RE=mTL_miRNA); TNFRSF13C (morbid/RE=mTL_miRNA); NR4A2 (HI=3/morbid/RE=mTL_miRNA); MYD88 (morbid/RE=mTL_miRNA); PIK3R2 (morbid/RE=mTL_miRNA); KCNA5 (morbid/RE=mTL_miRNA); DHODH (morbid/RE=mTL_miRNA); LFNG (morbid/RE=mTL_miRNA); ALPK3 (morbid/RE=mTL_miRNA); LMOD3 (morbid/RE=mTL_miRNA); UBE4A (morbid/RE=mTL_miRNA); ABHD12 (morbid/RE=mTL_miRNA); SPN (morbid/RE=mTL_miRNA); DNAAF5 (morbid/RE=mTL_miRNA); PGM2L1 (morbid/RE=mTL_miRNA); RIPK4 (morbid/RE=mTL_miRNA); MBOAT7 (morbid/RE=mTL_miRNA); SMARCE1 (morbid/RE=mTL_miRNA); IL17RA (morbid/RE=mTL_miRNA); RAB18 (morbid/RE=mTL_miRNA); DIAPH1 (morbid/RE=mTL_miRNA); RPSA (morbid/RE=mTL_miRNA); ATL3 (morbid/RE=mTL_miRNA); PDSS1 (morbid/RE=mTL_miRNA); IRF1 (morbid/RE=mTL_miRNA); ZBTB7A (morbid/RE=mTL_miRNA); SLC5A6 (morbid/RE=mTL_miRNA); MFSD8 (morbid/RE=mTL_miRNA); TERT (morbid/RE=mTL_miRNA); HADHA (morbid/RE=mTL_miRNA); CLDN19 (morbid/RE=mTL_miRNA); NME5 (morbid/RE=mTL_miRNA); RAD51 (morbid/RE=mTL_miRNA); COL5A1 (HI=3/morbid/RE=mTL_miRNA); MTO1 (morbid/RE=mTL_miRNA); GABRA1 (morbid/RE=mTL_miRNA); COX6B1 (morbid/RE=mTL_miRNA); GRM6 (morbid/RE=mTL_miRNA); COL6A1 (morbid/RE=mTL_miRNA); DNAJB13 (morbid/RE=mTL_miRNA); NRXN1 (HI=3/morbid/RE=mTL_miRNA); ASXL2 (morbid/RE=mTL_miRNA); CEP19 (morbid/RE=mTL_miRNA); CTC1 (morbid/RE=mTL_miRNA); SLC25A1 (morbid/RE=mTL_miRNA); ATG7 (morbid/RE=mTL_miRNA); LITAF (morbid/RE=mTL_miRNA); PHF8 (HI=3/morbid/RE=mTL_miRNA); DSG2 (morbid/RE=mTL_miRNA); CALM1 (morbid/RE=mTL_miRNA); GABRB3 (morbid/RE=mTL_miRNA); DNAAF3 (morbid/RE=mTL_miRNA); NAA10 (morbid/RE=mTL_miRNA); ELF4 (morbid/RE=mTL_miRNA); BAG5 (morbid/RE=mTL_miRNA); TNFAIP3 (morbid/RE=mTL_miRNA); HNRNPU (morbid/RE=mTL_miRNA); PDXK (morbid/RE=mTL_miRNA); NANOS1 (morbid/RE=mTL_miRNA); NUP214 (morbid/RE=mTL_miRNA); VHL (HI=3/morbid/RE=mTL_miRNA); GALC (morbid/RE=mTL_miRNA); NR3C1 (morbid/RE=mTL_miRNA); EBP (HI=3/morbid/RE=mTL_miRNA); CFAP43 (morbid/RE=mTL_miRNA); BAAT (morbid/RE=mTL_miRNA); PAX2 (HI=3/morbid/RE=mTL_miRNA); AP3B2 (morbid/RE=mTL_miRNA); MFN2 (morbid/RE=mTL_miRNA); ZNF711 (morbid/RE=mTL_miRNA); KIRREL1 (morbid/RE=mTL_miRNA); HELLS (morbid/RE=mTL_miRNA); SUZ12 (morbid/RE=mTL_miRNA); SCAF4 (morbid/RE=mTL_miRNA); CYLD (HI=3/morbid/RE=mTL_miRNA); CYP2C19 (morbid/RE=mTL_miRNA); LRP12 (morbid/RE=mTL_miRNA); PPP2R5D (morbid/RE=mTL_miRNA); STXBP2 (morbid/RE=mTL_miRNA); ISCA2 (morbid/RE=mTL_miRNA); LIPA (morbid/RE=mTL_miRNA); OTULIN (morbid/RE=mTL_miRNA); JUP (morbid/RE=mTL_miRNA); COL4A3 (morbid/RE=mTL_miRNA); REEP2 (morbid/RE=mTL_miRNA); GCK (morbid/RE=mTL_miRNA); DGKE (morbid/RE=mTL_miRNA); PEX26 (morbid/RE=mTL_miRNA); VANGL2 (morbid/RE=mTL_miRNA); TMEM126B (morbid/RE=mTL_miRNA); PEX6 (morbid/RE=mTL_miRNA); TAF8 (morbid/RE=mTL_miRNA); OGG1 (morbid/RE=mTL_miRNA); TPM3 (morbid/RE=mTL_miRNA); PLPBP (morbid/RE=mTL_miRNA); TAPBP (morbid/RE=mTL_miRNA); INF2 (morbid/RE=mTL_miRNA); NAA15 (HI=3/morbid/RE=mTL_miRNA); DPM2 (morbid/RE=mTL_miRNA); CHRNB2 (morbid/RE=mTL_miRNA); IDH3A (morbid/RE=mTL_miRNA); COCH (morbid/RE=mTL_miRNA); PRPF8 (morbid/RE=mTL_miRNA); MIEF1 (morbid/RE=mTL_miRNA); LRPAP1 (morbid/RE=mTL_miRNA); LGI3 (morbid/RE=mTL_miRNA); UNC80 (morbid/RE=mTL_miRNA); EIF2AK2 (morbid/RE=mTL_miRNA); NECTIN1 (morbid/RE=mTL_miRNA); TCF20 (HI=3/morbid/RE=mTL_miRNA); COX10 (morbid/RE=mTL_miRNA); MFF (morbid/RE=mTL_miRNA); PLEKHG2 (morbid/RE=mTL_miRNA); LHCGR (morbid/RE=mTL_miRNA); LDLR (HI=3/morbid/RE=mTL_miRNA); COL4A4 (morbid/RE=mTL_miRNA); FADS3 (morbid/RE=mTL_miRNA); LINGO1 (morbid/RE=mTL_miRNA); PHKG2 (morbid/RE=mTL_miRNA); HAX1 (morbid/RE=mTL_miRNA); RPS28 (morbid/RE=mTL_miRNA); VAPB (morbid/RE=mTL_miRNA); NLRP2 (morbid/RE=mTL_miRNA); SLC24A4 (morbid/RE=mTL_miRNA); KIF14 (morbid/RE=mTL_miRNA); TRNT1 (morbid/RE=mTL_miRNA); SLC9A3 (morbid/RE=mTL_miRNA); MTAP (morbid/RE=mTL_miRNA); MATN3 (morbid/RE=mTL_miRNA); EMC10 (morbid/RE=mTL_miRNA); SOX5 (HI=3/morbid/RE=mTL_miRNA); CTPS1 (morbid/RE=mTL_miRNA); ALG14 (morbid/RE=mTL_miRNA); SGO1 (morbid/RE=mTL_miRNA); NUMA1 (morbid/RE=mTL_miRNA); DNM2 (morbid/RE=mTL_miRNA); UFM1 (morbid/RE=mTL_miRNA); HMGCR (morbid/RE=mTL_miRNA); DYNC1H1 (morbid/RE=mTL_miRNA); PPP1R3A (morbid/RE=mTL_miRNA); VPS13A (morbid/RE=mTL_miRNA); SELENON (morbid/RE=mTL_miRNA); NFKBIA (morbid/RE=mTL_miRNA); SPOP (morbid/RE=mTL_miRNA); PDGFB (morbid/RE=mTL_miRNA); TMEM63A (morbid/RE=mTL_miRNA); CDK19 (morbid/RE=mTL_miRNA); ACOX1 (morbid/RE=mTL_miRNA); SLC19A3 (morbid/RE=mTL_miRNA); TKT (morbid/RE=mTL_miRNA); SORD (morbid/RE=mTL_miRNA); HGSNAT (morbid/RE=mTL_miRNA); RPA1 (morbid/RE=mTL_miRNA); AKT3 (morbid/RE=mTL_miRNA); CYBB (HI=3/morbid/RE=mTL_miRNA); IDH3B (morbid/RE=mTL_miRNA); PEX14 (morbid/RE=mTL_miRNA); PTRH2 (morbid/RE=mTL_miRNA); PCYT2 (morbid/RE=mTL_miRNA); ARSA (morbid/RE=mTL_miRNA); RRAGC (morbid/RE=mTL_miRNA); MAX (HI=3/morbid/RE=mTL_miRNA); AFF2 (HI=3/morbid/RE=mTL_miRNA); IFNAR1 (morbid/RE=mTL_miRNA); SNIP1 (morbid/RE=mTL_miRNA); MRPS12 (morbid/RE=mTL_miRNA); CTSA (morbid/RE=mTL_miRNA); SLX4 (morbid/RE=mTL_miRNA); ZSWIM7 (morbid/RE=mTL_miRNA); BACH1 (morbid/RE=mTL_miRNA); KCNJ13 (morbid/RE=mTL_miRNA); VPS13B (morbid/RE=mTL_miRNA); TUBB2A (morbid/RE=mTL_miRNA); COL12A1 (morbid/RE=mTL_miRNA); SLC9A1 (morbid/RE=mTL_miRNA); SLC30A10 (morbid/RE=mTL_miRNA); SPTB (morbid/RE=mTL_miRNA); MSMO1 (morbid/RE=mTL_miRNA); VEGFC (morbid/RE=mTL_miRNA); FANCF (morbid/RE=mTL_miRNA); VMA21 (morbid/RE=mTL_miRNA); ASNS (morbid/RE=mTL_miRNA); TRMU (morbid/RE=mTL_miRNA); CCND2 (morbid/RE=mTL_miRNA); SF1 (morbid/RE=mTL_miRNA); DHCR24 (morbid/RE=mTL_miRNA); GDAP1 (morbid/RE=mTL_miRNA); GSR (morbid/RE=mTL_miRNA); PNKD (morbid/RE=mTL_miRNA); TRAPPC4 (morbid/RE=mTL_miRNA); TAL1 (morbid/RE=mTL_miRNA); MARS2 (morbid/RE=mTL_miRNA); TSEN54 (morbid/RE=mTL_miRNA); HSPA9 (morbid/RE=mTL_miRNA); AAGAB (HI=3/morbid/RE=mTL_miRNA); CALR (morbid/RE=mTL_miRNA); SLC6A8 (HI=3/morbid/RE=mTL_miRNA); BRCA1 (HI=3/morbid/RE=mTL_miRNA); KCNQ2 (HI=3/morbid/RE=mTL_miRNA); CIC (HI=3/morbid/RE=mTL_miRNA); GPRC5B (morbid/RE=mTL_miRNA); UQCRFS1 (morbid/RE=mTL_miRNA); EPHA2 (morbid/RE=mTL_miRNA); MED17 (morbid/RE=mTL_miRNA); RCBTB1 (morbid/RE=mTL_miRNA); CHEK1 (morbid/RE=mTL_miRNA); F2 (morbid/RE=mTL_miRNA); GNPAT (morbid/RE=mTL_miRNA); FBXO11 (morbid/RE=mTL_miRNA); TECPR2 (morbid/RE=mTL_miRNA); MAP2K1 (morbid/RE=mTL_miRNA); AP3B1 (morbid/RE=mTL_miRNA); ZIC2 (HI=3/morbid/RE=mTL_miRNA); NEUROG1 (morbid/RE=mTL_miRNA); RNF6 (morbid/RE=mTL_miRNA); BPTF (HI=3/morbid/RE=mTL_miRNA); EPB42 (morbid/RE=mTL_miRNA); PPP1R13L (morbid/RE=mTL_miRNA); SETD5 (HI=3/morbid/RE=mTL_miRNA); CCDC115 (morbid/RE=mTL_miRNA); CD55 (morbid/RE=mTL_miRNA); POLH (morbid/RE=mTL_miRNA); PRRT2 (HI=3/morbid/RE=mTL_miRNA); SF3B2 (morbid/RE=mTL_miRNA); MAP3K1 (morbid/RE=mTL_miRNA); PRLR (morbid/RE=mTL_miRNA); SELENOI (morbid/RE=mTL_miRNA); BAX (morbid/RE=mTL_miRNA); SLC25A15 (morbid/RE=mTL_miRNA); FN1 (morbid/RE=mTL_miRNA); SMC2 (morbid/RE=mTL_miRNA); CLPP (morbid/RE=mTL_miRNA); WNT2B (morbid/RE=mTL_miRNA); SLC25A4 (morbid/RE=mTL_miRNA); SLC25A11 (morbid/RE=mTL_miRNA); VPS13D (morbid/RE=mTL_miRNA); WASF1 (morbid/RE=mTL_miRNA); POLR3A (morbid/RE=mTL_miRNA); TUBGCP4 (morbid/RE=mTL_miRNA); ABCG8 (morbid/RE=mTL_miRNA); WT1 (HI=3/morbid/RE=mTL_miRNA); PEX10 (morbid/RE=mTL_miRNA); DDOST (morbid/RE=mTL_miRNA); PISD (morbid/RE=mTL_miRNA); UQCRC2 (morbid/RE=mTL_miRNA); BMPR2 (HI=3/morbid/RE=mTL_miRNA); NPTX1 (morbid/RE=mTL_miRNA); GSS (morbid/RE=mTL_miRNA); SH3TC2 (morbid/RE=mTL_miRNA); TOMM7 (morbid/RE=mTL_miRNA); CHD8 (HI=3/morbid/RE=mTL_miRNA); KREMEN1 (morbid/RE=mTL_miRNA); APC2 (morbid/RE=mTL_miRNA); NDUFS1 (morbid/RE=mTL_miRNA); DPM3 (morbid/RE=mTL_miRNA); SLC1A4 (morbid/RE=mTL_miRNA); XPNPEP3 (morbid/RE=mTL_miRNA); DNAJB4 (morbid/RE=mTL_miRNA); HMX1 (morbid/RE=mTL_miRNA); RFX5 (morbid/RE=mTL_miRNA); F9 (HI=3/morbid/RE=mTL_miRNA); COL27A1 (morbid/RE=mTL_miRNA); LPL (morbid/RE=mTL_miRNA); TAT (morbid/RE=mTL_miRNA); NDRG1 (morbid/RE=mTL_miRNA); BACH2 (morbid/RE=mTL_miRNA); NDUFA10 (morbid/RE=mTL_miRNA); NCDN (morbid/RE=mTL_miRNA); ABCA1 (morbid/RE=mTL_miRNA); PROK2 (morbid/RE=mTL_miRNA); CLCN3 (morbid/RE=mTL_miRNA); SERAC1 (morbid/RE=mTL_miRNA); DEPDC5 (morbid/RE=mTL_miRNA); ADAR (morbid/RE=mTL_miRNA); ESR1 (morbid/RE=mTL_miRNA); GFRA1 (morbid/RE=mTL_miRNA); CLCC1 (morbid/RE=mTL_miRNA); C3 (morbid/RE=mTL_miRNA); RORA (morbid/RE=mTL_miRNA); LMNB2 (morbid/RE=mTL_miRNA); ACAD9 (morbid/RE=mTL_miRNA); ATP6AP2 (morbid/RE=mTL_miRNA); DNAH9 (morbid/RE=mTL_miRNA); SNCB (morbid/RE=mTL_miRNA); RFT1 (morbid/RE=mTL_miRNA); WBP2 (morbid/RE=mTL_miRNA); FXR1 (morbid/RE=mTL_miRNA); TGIF1 (HI=3/morbid/RE=mTL_miRNA); RPL15 (morbid/RE=mTL_miRNA); KMT2A (HI=3/morbid/RE=mTL_miRNA); ERI1 (morbid/RE=mTL_miRNA); COL4A2 (morbid/RE=mTL_miRNA); RAB3GAP2 (morbid/RE=mTL_miRNA); XPR1 (morbid/RE=mTL_miRNA); HK1 (morbid/RE=mTL_miRNA); KIF1B (morbid/RE=mTL_miRNA); SQSTM1 (morbid/RE=mTL_miRNA); WLS (morbid/RE=mTL_miRNA); LRIG2 (morbid/RE=mTL_miRNA); USP48 (morbid/RE=mTL_miRNA); ARSK (morbid/RE=mTL_miRNA); GPSM2 (morbid/RE=mTL_miRNA); ADGRL1 (morbid/RE=mTL_miRNA); WDR1 (morbid/RE=mTL_miRNA); PPP2R1B (morbid/RE=mTL_miRNA); MALT1 (morbid/RE=mTL_miRNA); ARFGEF1 (morbid/RE=mTL_miRNA); PABPN1 (morbid/RE=mTL_miRNA); MYO6 (morbid/RE=mTL_miRNA); NAA20 (morbid/RE=mTL_miRNA); EIF2B3 (morbid/RE=mTL_miRNA); CCDC134 (morbid/RE=mTL_miRNA); MMADHC (morbid/RE=mTL_miRNA); ABHD5 (morbid/RE=mTL_miRNA); PMPCA (morbid/RE=mTL_miRNA); LAMP2 (HI=3/morbid/RE=mTL_miRNA); ZNF644 (morbid/RE=mTL_miRNA); PGK1 (morbid/RE=mTL_miRNA); FKTN (morbid/RE=mTL_miRNA); SAMD9L (morbid/RE=mTL_miRNA); MDH2 (morbid/RE=mTL_miRNA); CTNND1 (morbid/RE=mTL_miRNA); ARCN1 (HI=3/morbid/RE=mTL_miRNA); TP53 (HI=3/morbid/RE=mTL_miRNA); CEP112 (morbid/RE=mTL_miRNA); PKP1 (morbid/RE=mTL_miRNA); ZFHX3 (morbid/RE=mTL_miRNA); LPP (morbid/RE=mTL_miRNA); ERBB2 (morbid/RE=mTL_miRNA); MDFIC (morbid/RE=mTL_miRNA); GDI1 (morbid/RE=mTL_miRNA); CYP11A1 (morbid/RE=mTL_miRNA); SCO1 (morbid/RE=mTL_miRNA); IBA57 (morbid/RE=mTL_miRNA); OSMR (morbid/RE=mTL_miRNA); SLC30A7 (morbid/RE=mTL_miRNA); STAT1 (morbid/RE=mTL_miRNA); DYRK1A (HI=3/morbid/RE=mTL_miRNA); EXOC2 (morbid/RE=mTL_miRNA); SIX3 (HI=3/morbid/RE=mTL_miRNA); ST14 (morbid/RE=mTL_miRNA); SMARCA4 (morbid/RE=mTL_miRNA); NSD2 (HI=3/morbid/RE=mTL_miRNA); TMEM63C (morbid/RE=mTL_miRNA); NEK9 (morbid/RE=mTL_miRNA); ING1 (morbid/RE=mTL_miRNA); TRAPPC10 (morbid/RE=mTL_miRNA); SUMF1 (morbid/RE=mTL_miRNA); ALDH1A2 (morbid/RE=mTL_miRNA); TANGO2 (morbid/RE=mTL_miRNA); ALDOA (morbid/RE=mTL_miRNA); ABCB11 (morbid/RE=mTL_miRNA); BRPF1 (HI=3/morbid/RE=mTL_miRNA); DLST (morbid/RE=mTL_miRNA); MAST1 (morbid/RE=mTL_miRNA); FANCC (morbid/RE=mTL_miRNA); MSTO1 (morbid/RE=mTL_miRNA); MYOCD (morbid/RE=mTL_miRNA); RPS19 (HI=3/morbid/RE=mTL_miRNA); CYC1 (morbid/RE=mTL_miRNA); MSH6 (HI=3/morbid/RE=mTL_miRNA); NLRP12 (morbid/RE=mTL_miRNA); FGF2 (morbid/RE=mTL_miRNA); CPT1A (morbid/RE=mTL_miRNA); FGB (morbid/RE=mTL_miRNA); UGDH (morbid/RE=mTL_miRNA); CSNK2A1 (morbid/RE=mTL_miRNA); SAG (morbid/RE=mTL_miRNA); GMPPB (morbid/RE=mTL_miRNA); EP300 (HI=3/morbid/RE=mTL_miRNA); PLAG1 (morbid/RE=mTL_miRNA); ITGA8 (morbid/RE=mTL_miRNA); JAK3 (morbid/RE=mTL_miRNA); LIG1 (morbid/RE=mTL_miRNA); CYP2B6 (morbid/RE=mTL_miRNA); P3H2 (morbid/RE=mTL_miRNA); MSL3 (HI=3/morbid/RE=mTL_miRNA); VLDLR (morbid/RE=mTL_miRNA); CLCN6 (morbid/RE=mTL_miRNA); LDLRAP1 (morbid/RE=mTL_miRNA); POMK (morbid/RE=mTL_miRNA); MFRP (morbid/RE=mTL_miRNA); SRC (morbid/RE=mTL_miRNA); RNASEH1 (morbid/RE=mTL_miRNA); TECR (morbid/RE=mTL_miRNA); GRIN2A (HI=3/morbid/RE=mTL_miRNA); NF2 (HI=3/morbid/RE=mTL_miRNA); CHD5 (morbid/RE=mTL_miRNA); PLEKHM1 (morbid/RE=mTL_miRNA); HSD3B7 (morbid/RE=mTL_miRNA); TUBB2B (morbid/RE=mTL_miRNA); UBA1 (morbid/RE=mTL_miRNA); DRG1 (morbid/RE=mTL_miRNA); UMPS (morbid/RE=mTL_miRNA); DNAH17 (morbid/RE=mTL_miRNA); CLDN10 (morbid/RE=mTL_miRNA); VPS11 (morbid/RE=mTL_miRNA); GPR143 (morbid/RE=mTL_miRNA); DLC1 (morbid/RE=mTL_miRNA); KLHL7 (morbid/RE=mTL_miRNA); SLC6A19 (morbid/RE=mTL_miRNA); MYBPC3 (HI=3/morbid/RE=mTL_miRNA); SCN9A (morbid/RE=mTL_miRNA); BPGM (morbid/RE=mTL_miRNA); SLC6A9 (morbid/RE=mTL_miRNA); DSC3 (morbid/RE=mTL_miRNA); ITGA3 (morbid/RE=mTL_miRNA); POU4F3 (HI=3/morbid/RE=mTL_miRNA); ATF6 (morbid/RE=mTL_miRNA); ASXL3 (HI=3/morbid/RE=mTL_miRNA); MYH9 (morbid/RE=mTL_miRNA); ADIPOQ (morbid/RE=mTL_miRNA); GON7 (morbid/RE=mTL_miRNA); RRM1 (morbid/RE=mTL_miRNA); HECW2 (morbid/RE=mTL_miRNA); HMOX1 (morbid/RE=mTL_miRNA); ACACA (morbid/RE=mTL_miRNA); CLDN16 (morbid/RE=mTL_miRNA); NPHP3 (morbid/RE=mTL_miRNA); PAK3 (morbid/RE=mTL_miRNA); ITGB3 (morbid/RE=mTL_miRNA); MAST3 (morbid/RE=mTL_miRNA); VPS50 (morbid/RE=mTL_miRNA); ANO3 (morbid/RE=mTL_miRNA); COL9A2 (morbid/RE=mTL_miRNA); RAB11B (morbid/RE=mTL_miRNA); HOXD10 (morbid/RE=mTL_miRNA); SRSF1 (morbid/RE=mTL_miRNA); PLCD1 (morbid/RE=mTL_miRNA); PBX1 (HI=3/morbid/RE=mTL_miRNA); TRAF7 (morbid/RE=mTL_miRNA); LRAT (morbid/RE=mTL_miRNA); THSD4 (morbid/RE=mTL_miRNA); PADI3 (morbid/RE=mTL_miRNA); PRX (morbid/RE=mTL_miRNA); RBM20 (morbid/RE=mTL_miRNA); GABRB1 (morbid/RE=mTL_miRNA); EDEM3 (morbid/RE=mTL_miRNA); IFNGR1 (morbid/RE=mTL_miRNA); NSUN3 (morbid/RE=mTL_miRNA); ANAPC1 (morbid/RE=mTL_miRNA); SMAD1 (morbid/RE=mTL_miRNA); NDUFB11 (morbid/RE=mTL_miRNA); OPTN (morbid/RE=mTL_miRNA); OCLN (morbid/RE=mTL_miRNA); ANK1 (morbid/RE=mTL_miRNA); PLCG2 (morbid/RE=mTL_miRNA); MCM3AP (morbid/RE=mTL_miRNA); KIF2A (morbid/RE=mTL_miRNA); IDS (HI=3/morbid/RE=mTL_miRNA); TTF2 (morbid/RE=mTL_miRNA); SGMS2 (morbid/RE=mTL_miRNA); MSH3 (morbid/RE=mTL_miRNA); LYST (morbid/RE=mTL_miRNA); TMEM199 (morbid/RE=mTL_miRNA); NUS1 (HI=3/morbid/RE=mTL_miRNA); RTN2 (morbid/RE=mTL_miRNA); CACNA1B (morbid/RE=mTL_miRNA); NONO (morbid/RE=mTL_miRNA); COA7 (morbid/RE=mTL_miRNA); LRPPRC (morbid/RE=mTL_miRNA); DCAF17 (morbid/RE=mTL_miRNA); MLH3 (morbid/RE=mTL_miRNA); PUS1 (morbid/RE=EA_enhancer+GH_promoter_enhancer); CCDC8 (morbid/RE=mTL_miRNA); CUBN (morbid/RE=mTL_miRNA); IL2RA (morbid/RE=mTL_miRNA); FZD4 (HI=3/morbid/RE=mTL_miRNA); NRL (morbid/RE=mTL_miRNA); DLAT (morbid/RE=mTL_miRNA); HPS4 (morbid/RE=mTL_miRNA); AGBL5 (morbid/RE=mTL_miRNA); KCNJ16 (morbid/RE=mTL_miRNA); PCBD1 (morbid/RE=mTL_miRNA); CALM3 (morbid/RE=mTL_miRNA); TUBA8 (morbid/RE=mTL_miRNA); LYN (morbid/RE=mTL_miRNA); GIPC1 (morbid/RE=mTL_miRNA); SYT2 (morbid/RE=mTL_miRNA); TSPAN12 (morbid/RE=mTL_miRNA); SPTSSA (morbid/RE=mTL_miRNA); CHMP4B (morbid/RE=mTL_miRNA); DPP9 (morbid/RE=mTL_miRNA); IGF1R (HI=3/morbid/RE=mTL_miRNA); KDM6B (morbid/RE=mTL_miRNA); POU3F3 (morbid/RE=mTL_miRNA); HIVEP2 (HI=3/morbid/RE=mTL_miRNA); TG (morbid/RE=mTL_miRNA); ZNF687 (morbid/RE=mTL_miRNA); CYCS (morbid/RE=mTL_miRNA); CPE (morbid/RE=mTL_miRNA); GTPBP2 (morbid/RE=mTL_miRNA); NEK8 (morbid/RE=mTL_miRNA); FZD6 (morbid/RE=mTL_miRNA); CHD1 (morbid/RE=mTL_miRNA); TET2 (morbid/RE=mTL_miRNA); POLR1A (morbid/RE=mTL_miRNA); PRKCA (morbid/RE=mTL_miRNA); GPI (morbid/RE=mTL_miRNA); FAAH (morbid/RE=mTL_miRNA); L2HGDH (morbid/RE=mTL_miRNA); KDM5B (morbid/RE=mTL_miRNA); RBM8A (morbid/RE=mTL_miRNA); TFRC (morbid/RE=mTL_miRNA); DNAJC21 (morbid/RE=mTL_miRNA); ACTN4 (morbid/RE=mTL_miRNA); SLC22A5 (morbid/RE=mTL_miRNA); ADAM9 (morbid/RE=mTL_miRNA); TRMT10C (morbid/RE=mTL_miRNA); EIF2B4 (morbid/RE=mTL_miRNA); DRAM2 (morbid/RE=mTL_miRNA); EXOC6B (morbid/RE=mTL_miRNA); RUNX1 (HI=3/morbid/RE=mTL_miRNA); EMC1 (morbid/RE=mTL_miRNA); SLC30A2 (morbid/RE=mTL_miRNA); GPT2 (morbid/RE=mTL_miRNA); PEX7 (morbid/RE=mTL_miRNA); CAPRIN1 (morbid/RE=mTL_miRNA); EDAR (morbid/RE=mTL_miRNA); MFSD2A (morbid/RE=mTL_miRNA); BCORL1 (morbid/RE=mTL_miRNA); MATR3 (morbid/RE=mTL_miRNA); TRIM37 (morbid/RE=mTL_miRNA); APP (morbid/RE=mTL_miRNA); A4GALT (morbid/RE=mTL_miRNA); NAGS (morbid/RE=mTL_miRNA); ENG (HI=3/morbid/RE=mTL_miRNA); CD3D (morbid/RE=mTL_miRNA); PEX13 (morbid/RE=mTL_miRNA); IFNAR2 (morbid/RE=mTL_miRNA); NDUFA6 (morbid/RE=mTL_miRNA); NCAPG2 (morbid/RE=mTL_miRNA); EIF5A (morbid/RE=mTL_miRNA); TYMS (morbid/RE=mTL_miRNA); SCARB2 (morbid/RE=mTL_miRNA); SACS (morbid/RE=mTL_miRNA); WDR45B (morbid/RE=mTL_miRNA); MAK (morbid/RE=mTL_miRNA); WDR26 (HI=3/morbid/RE=mTL_miRNA); SH3BP2 (morbid/RE=mTL_miRNA); LGR4 (morbid/RE=mTL_miRNA); SMPD4 (morbid/RE=mTL_miRNA); MYH14 (morbid/RE=mTL_miRNA); AGTPBP1 (morbid/RE=mTL_miRNA); ORC1 (morbid/RE=mTL_miRNA); SVIL (morbid/RE=mTL_miRNA); LRSAM1 (morbid/RE=mTL_miRNA); GATAD2B (HI=3/morbid/RE=mTL_miRNA); GNB2 (morbid/RE=mTL_miRNA); ADCY5 (morbid/RE=mTL_miRNA); DCX (HI=3/morbid/RE=mTL_miRNA); MAGT1 (HI=3/morbid/RE=mTL_miRNA); SLC17A5 (morbid/RE=mTL_miRNA); GALM (morbid/RE=mTL_miRNA); NHLRC2 (morbid/RE=mTL_miRNA); SLC7A7 (morbid/RE=mTL_miRNA); NLGN4X (morbid/RE=mTL_miRNA); KLF6 (morbid/RE=mTL_miRNA); TBL1XR1 (HI=3/morbid/RE=mTL_miRNA); BLOC1S5 (morbid/RE=mTL_miRNA); SGCD (morbid/RE=mTL_miRNA); DDB1 (morbid/RE=mTL_miRNA); TRPM6 (morbid/RE=mTL_miRNA); FUT8 (morbid/RE=mTL_miRNA); ZMYND11 (HI=3/morbid/RE=mTL_miRNA); PFN1 (morbid/RE=mTL_miRNA); GRIK2 (morbid/RE=mTL_miRNA); UBE2A (HI=3/morbid/RE=mTL_miRNA); APOA1 (morbid/RE=mTL_miRNA); MYCN (HI=3/morbid/RE=mTL_miRNA); ATP8B1 (morbid/RE=mTL_miRNA); FXYD2 (morbid/RE=mTL_miRNA); GATM (morbid/RE=mTL_miRNA); PTCD3 (morbid/RE=mTL_miRNA); DOCK7 (morbid/RE=mTL_miRNA); POMGNT1 (morbid/RE=mTL_miRNA); TIMM50 (morbid/RE=mTL_miRNA); CDC73 (HI=3/morbid/RE=mTL_miRNA); ATN1 (morbid/RE=mTL_miRNA); IL6R (morbid/RE=mTL_miRNA); SCN1A (HI=3/morbid/RE=mTL_miRNA); BUB1 (morbid/RE=mTL_miRNA); CHAMP1 (morbid/RE=mTL_miRNA); COG4 (morbid/RE=mTL_miRNA); GALNT2 (morbid/RE=mTL_miRNA); OPHN1 (HI=3/morbid/RE=mTL_miRNA); CNBP (morbid/RE=mTL_miRNA); SRRM2 (HI=3/morbid/RE=mTL_miRNA); SMARCAD1 (morbid/RE=mTL_miRNA); BICD2 (morbid/RE=mTL_miRNA); CLMP (morbid/RE=mTL_miRNA); CLDN11 (morbid/RE=mTL_miRNA); NFASC (morbid/RE=mTL_miRNA); SYNGAP1 (HI=3/morbid/RE=mTL_miRNA); DSG1 (morbid/RE=mTL_miRNA); CLCN5 (HI=3/morbid/RE=mTL_miRNA); CNOT1 (HI=3/morbid/RE=mTL_miRNA); SMAD9 (morbid/RE=mTL_miRNA); SATB1 (morbid/RE=mTL_miRNA); RNASEH2B (morbid/RE=mTL_miRNA); MIF (morbid/RE=mTL_miRNA); ACSL6 (morbid/RE=mTL_miRNA); OCRL (HI=3/morbid/RE=mTL_miRNA); KIF1C (morbid/RE=mTL_miRNA); EMP2 (morbid/RE=mTL_miRNA); TPRKB (morbid/RE=mTL_miRNA); GNE (morbid/RE=mTL_miRNA); ZNF148 (morbid/RE=mTL_miRNA); SLC9A7 (morbid/RE=mTL_miRNA); CD36 (morbid/RE=mTL_miRNA); ADSL (morbid/RE=mTL_miRNA); SEPSECS (morbid/RE=mTL_miRNA); C12orf4 (morbid/RE=mTL_miRNA); GREM2 (morbid/RE=mTL_miRNA); WBP11 (morbid/RE=mTL_miRNA); RNF216 (morbid/RE=mTL_miRNA); NAGA (morbid/RE=mTL_miRNA); TRPM1 (morbid/RE=mTL_miRNA); LRTOMT (morbid/RE=mTL_miRNA); FANCM (morbid/RE=mTL_miRNA); BCL11A (HI=3/morbid/RE=mTL_miRNA); OGT (morbid/RE=mTL_miRNA); INTS1 (morbid/RE=mTL_miRNA); PACS2 (morbid/RE=mTL_miRNA); HCFC1 (morbid/RE=mTL_miRNA); MTHFR (morbid/RE=mTL_miRNA); GFPT1 (morbid/RE=mTL_miRNA); LPIN1 (morbid/RE=mTL_miRNA); S1PR2 (morbid/RE=mTL_miRNA); DCLRE1B (morbid/RE=mTL_miRNA); MPDU1 (morbid/RE=mTL_miRNA); GLIS2 (morbid/RE=mTL_miRNA); ALG9 (morbid/RE=mTL_miRNA); TRPC6 (morbid/RE=mTL_miRNA); TPRN (morbid/RE=mTL_miRNA); EPG5 (morbid/RE=mTL_miRNA); LIPH (morbid/RE=mTL_miRNA); TRAPPC2 (HI=3/morbid/RE=mTL_miRNA); BRIP1 (HI=3/morbid/RE=mTL_miRNA); CDKN1B (HI=3/morbid/RE=mTL_miRNA); IRF2BPL (morbid/RE=mTL_miRNA); CNGA3 (morbid/RE=mTL_miRNA); TUBB4A (morbid/RE=mTL_miRNA); USP53 (morbid/RE=mTL_miRNA); SIX5 (morbid/RE=mTL_miRNA); MECR (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=mTL_miRNA); IL7R (morbid/RE=mTL_miRNA); SSR4 (morbid/RE=mTL_miRNA); TPM1 (morbid/RE=mTL_miRNA); PURA (HI=3/morbid/RE=mTL_miRNA); CIITA (morbid/RE=mTL_miRNA); IYD (morbid/RE=mTL_miRNA); GLA (HI=3/morbid/RE=mTL_miRNA); CEP78 (morbid/RE=mTL_miRNA); TSHZ1 (morbid/RE=mTL_miRNA); MCM10 (morbid/RE=mTL_miRNA); TUBB4B (morbid/RE=mTL_miRNA); LETM1 (morbid/RE=mTL_miRNA); LTBP4 (morbid/RE=mTL_miRNA); SIX1 (morbid/RE=mTL_miRNA); B3GALNT2 (morbid/RE=mTL_miRNA); RPS24 (HI=3/morbid/RE=mTL_miRNA); NUP54 (morbid/RE=mTL_miRNA); CHST6 (morbid/RE=mTL_miRNA); SUPT16H (morbid/RE=mTL_miRNA); QDPR (morbid/RE=mTL_miRNA); SH2D1A (HI=3/morbid/RE=mTL_miRNA); CWF19L1 (morbid/RE=mTL_miRNA); VCP (morbid/RE=mTL_miRNA); MYPN (morbid/RE=mTL_miRNA); ATP7B (morbid/RE=mTL_miRNA); SLC1A2 (morbid/RE=mTL_miRNA); PIGG (morbid/RE=mTL_miRNA); LRBA (morbid/RE=mTL_miRNA); BCS1L (morbid/RE=mTL_miRNA); MET (morbid/RE=mTL_miRNA); SLC25A36 (morbid/RE=mTL_miRNA); EMD (morbid/RE=mTL_miRNA); FBXW7 (morbid/RE=mTL_miRNA); TAF13 (morbid/RE=mTL_miRNA); NUP93 (morbid/RE=mTL_miRNA); BRWD1 (morbid/RE=mTL_miRNA); IMPDH1 (morbid/RE=mTL_miRNA); NFIB (morbid/RE=mTL_miRNA); ACTC1 (morbid/RE=mTL_miRNA); NUP133 (morbid/RE=mTL_miRNA); AHCY (morbid/RE=mTL_miRNA); KLHL3 (morbid/RE=mTL_miRNA); PPIL1 (morbid/RE=mTL_miRNA); GBA2 (morbid/RE=mTL_miRNA); PRPS1 (morbid/RE=mTL_miRNA); TLR7 (morbid/RE=mTL_miRNA); ATP11A (morbid/RE=mTL_miRNA); MITF (HI=3/morbid/RE=mTL_miRNA); SET (morbid/RE=mTL_miRNA); CORO1A (morbid/RE=mTL_miRNA); NKAP (morbid/RE=mTL_miRNA); IRS4 (morbid/RE=mTL_miRNA); MTHFD1 (morbid/RE=mTL_miRNA); TRIP12 (HI=3/morbid/RE=mTL_miRNA); KIT (morbid/RE=mTL_miRNA); THOC2 (morbid/RE=mTL_miRNA); NUP62 (morbid/RE=mTL_miRNA); CDK8 (morbid/RE=mTL_miRNA); TP53RK (morbid/RE=mTL_miRNA); SAR1B (morbid/RE=mTL_miRNA); FZR1 (morbid/RE=mTL_miRNA); GOT2 (morbid/RE=mTL_miRNA); LINS1 (morbid/RE=mTL_miRNA); PAFAH1B1 (HI=3/morbid/RE=mTL_miRNA); SPPL2A (morbid/RE=mTL_miRNA); COASY (morbid/RE=mTL_miRNA); SERPING1 (morbid/RE=mTL_miRNA); BCOR (HI=3/morbid/RE=mTL_miRNA); NT5C2 (morbid/RE=mTL_miRNA); TULP1 (morbid/RE=mTL_miRNA); C1GALT1C1 (morbid/RE=mTL_miRNA); CLTC (HI=3/morbid/RE=mTL_miRNA); SOCS1 (morbid/RE=mTL_miRNA); NAF1 (morbid/RE=mTL_miRNA); CDKN2A (HI=3/RE=mTL_miRNA); WDFY3 (HI=3/RE=mTL_miRNA); NCKAP1 (HI=3/RE=mTL_miRNA); RAD51D (HI=3/RE=mTL_miRNA); PTCHD1 (HI=3/RE=mTL_miRNA); |
12:100267177-100341715; 12:100357074-10042205[...]P_loss_coord : 12:100267177-100341715; 12:100357074-100422055; 12:100492477-100524210; 12:100503360-100564414; 12:101594971-101695841; 12:101728648-101739462; 12:101747145-101796782; 12:101747155-101761773; 12:101747155-101830685; 12:101756215-101830959; 12:101764193-101780631; 12:101764639-101791596; 12:101780143-101780631; 12:101780143-101830685; 12:102417491-102481839; 12:102419490-102480381; 12:102650556-111202001; 12:102840517-102851686; 12:102843646-102846950; 12:102851253-102856068; 12:102851254-102856067; 12:102852796-102877570; 12:102853828-102917244; 12:102854489-102855290; 12:102854490-102855289; 12:102854491-102855289; 12:102854492-102855289; 12:102854999-102866649; 12:102855117-102855352; 12:102855127-102855342; 12:102855175-102855352; 12:102865713-102871067; 12:102865714-102871066; 12:102866370-102868041; 12:102866371-102868040; 12:102866577-102866683; 12:102866587-102866673; 12:102866595-102866663; 12:102894726-102894931; 12:102894736-102894918; 12:102917062-102917140; 12:102917539-102921296; 12:103836685-111546997; 12:105118480-105169130; 12:105234678-112194686; 12:106105037-111815102; 12:106358110-106510198; 12:106454483-106463640; 12:108564060-108569384; 12:109098172-109110992; 12:109477634-109547829; 12:109553706-109557146; 12:109553715-109573504; 12:109561021-109565196; 12:109571640-109574910; 12:109572009-109582083; 12:109573424-109579904; 12:109573794-109598125; 12:109575979-109576165; 12:109595009-109596577; 12:109595009-109596597; 12:109792679-109819633; 12:110124357-110218793; 12:110143363-110143565; 12:110209152-110328037; 12:110281247-110351093; 12:110281791-110282795; 12:110292001-110292144; 12:110377514-110403708; 12:110383050-110391101; 12:110614404-110626361; 12:110626343-110626512; 12:110626343-110636521; 12:110626343-110642409; 12:110641950-110645110; 12:110910820-110911175; 12:110910845-110921449; 12:111100004-111350554; 12:111445028-111451623; 12:111452214-111599673; 12:111766933-111817532; 12:111842228-111902222; 12:112160195-112382431; 12:112418947-112509918; 12:112418948-112509918; 12:112471497-112477633; 12:112472925-112473060; 12:112477646-112478021; 12:112477652-112478015; 12:112682848-114924779; 12:112906962-112933219; 12:113008007-114496055; 12:113077776-114372366; 12:113392445-113403887; 12:114318753-114433403; 12:114353805-114355429; 12:114353912-114408442; 12:114353930-114408442; 12:114355513-114403918; 12:114355523-114356116; 12:114355533-114399652; 12:114385457-114385587; 12:114390253-114394865; 12:114394722-114394913; 12:114399586-114408384; 12:114401807-114401940; 12:114401817-114401930; 12:114557841-114939120; 12:114670255-114684175; 12:114670256-114684175; 12:115574474-116345711; 12:115591060-118354003; 12:115958576-116277693; 12:115958577-116277693; 12:115961247-116096772; 12:115980731-115982623; 12:115982184-116022795; 12:116005659-116019999; 12:116008504-116200640; 12:116014142-116019839; 12:116014143-116019838; 12:116018725-116050715; 12:116019419-116054358; 12:116024443-116165654; 12:116038359-116218486; 12:116043865-116131751; 12:116046436-116126238; 12:116060178-116097144; 12:116065323-116120287; 12:116085996-116143669; 12:116090710-116168006; 12:116093408-116167581; 12:116096650-116111532; 12:116096670-116111512; 12:116103618-116165654; 12:116184928-116248171; 12:116235336-116239190; 12:117208142-117361626; 12:119178931-119194746; 12:119685791-119877320; 12:120215204-120265730; 12:120438113-120440730; 12:120446444-120463749; 12:120504069-122459718; 12:120718787-127500215; 12:120725826-120740008; 12:120734963-120738432; 12:120736652-120738644; 12:120978543-121002512; 12:120978544-121002512; 12:120999281-120999453; 12:121325875-122505529; 12:121453121-122035427; 12:121471001-122459718; 12:121626530-121643109; 12:121626744-121627070; 12:121731498-128599618; 12:121804374-121832656; 12:121839527-121888611; 12:121843691-121847234; 12:121857434-121858686; 12:121917759-127802717; 12:121918592-122003919; 12:121994802-122002722; 12:122207668-122227456; 12:122252862-122266494; 12:122985203-130714574; 12:123242628-123257960; 12:123252158-123255846; 12:123252159-123255845; 12:123253675-123253956; 12:123253676-123253956; 12:123256794-123257031; 12:123394299-126344795; 12:123517315-123533719; 12:123620406-123633686; 12:123671113-123704531; 12:123679291-123699703; 12:123686945-123708399; 12:123699685-123699830; 12:123704513-123707713; 12:123704690-123708404; 12:123736186-123761755; 12:123853962-123935714; 12:124952814-124989131; 12:31086226-31104799; 12:32576257-32640543; 12:32576353-32619876; 12:32576359-32640533; 12:32576359-32896731; 12:32600488-32646050; 12:32710958-32745650; 12:32713190-32713391; 12:32746544-32755897; 12:32784036-32912520; 12:32790756-32896777; 12:32792405-32824182; 12:32792405-32896751; 12:32792415-32796308; 12:32792415-32896741; 12:32792425-32796318; 12:32796090-32796318; 12:32796090-32802576; 12:32796100-32796308; 12:32796100-32802566; 12:32796110-32802556; 12:32801396-32802409; 12:32802384-32802576; 12:32820144-32896777; 12:32824026-32824182; 12:32824036-32824172; 12:32824046-32824162; 12:32841027-32841207; 12:32841028-32841206; 12:32841028-32850974; 12:32842944-32843250; 12:32843316-32868927; 12:32850747-32850993; 12:32850757-32850983; 12:32850761-32850979; 12:32868908-32869082; 12:32868908-32879052; 12:32868918-32869072; 12:32868918-32879042; 12:32877827-32879052; 12:32877827-32896731; 12:32877837-32879042; 12:32877837-32896741; 12:32877847-32879032; 12:32878982-32880672; 12:32878983-32880671; 12:39183514-40188995; 12:39293228-39443120; 12:40713888-46551900; 12:42456757-42589746; 12:42476401-42505654; 12:42477878-42504431; 12:43514692-47706302; 12:43759207-43789541; 12:43775406-43788500; 12:43782288-43782510; 12:43783643-43786735; 12:44267367-48527421; 12:45292690-45432349; 12:45685369-45864565; 12:45690001-45750000; 12:45729706-45908037; 12:45729707-45908037; 12:45731284-45836582; 12:45747991-45982172; 12:45756226-45927887; 12:45774390-45910936; 12:45783438-45819261; 12:45813318-45848861; 12:45836590-45839496; 12:47841537-47904994; 12:47844076-47844850; 12:47972967-48006212; 12:47972968-48006212; 12:47974267-47977735; 12:47975595-47976060; 12:47975596-47976059; 12:47983546-47986867; 12:47983547-47986866; 12:47984940-47985027; 12:47984941-47985026; 12:48122647-48146404; 12:48640543-49075183; 12:48766194-48789974; 12:48904133-48921576; 12:48965340-48971735; 12:48978322-48982620; 12:49018978-49060794; 12:49018979-49060794; 12:49025252-49030913; 12:49032881-49032939; 12:49039725-49043428; 12:49040812-49045663; 12:49086656-49094801; 12:49184795-49189080; 12:49295147-49298686; 12:49950737-49958878; 12:49954146-49955618; 12:49954691-49964135; 12:49961872-49965682; 12:50085342-50100707; 12:50104008-50111313; 12:50122360-53248460; 12:50504985-50748657; 12:50633889-52851909; 12:50985992-51028886; 12:51552552-51630436; 12:51591233-51812864; 12:51662799-51688869; 12:51684155-51701227; 12:51782159-51786734; 12:51906945-51923361; 12:51912383-51923361; 12:51912456-51920913; 12:51912466-51912545; 12:51912466-51920903; 12:51912476-51914093; 12:51913080-51913790; 12:51913080-51916253; 12:51913090-51916243; 12:51913540-51919135; 12:51913955-51919135; 12:51916017-51916253; 12:51920692-51920903; 12:51920740-51920893; 12:51920740-51920913; 12:51920760-51923361; 12:51971985-51997078; 12:52274645-52309163; 12:52285913-52308624; 12:52314301-52321398; 12:52360006-52367481; 12:52446651-52452146; 12:52468516-52473805; 12:52487176-52493257; 12:52514575-52520394; 12:52565782-52573843; 12:52644558-52652211; 12:52674736-52680407; 12:52789685-52796117; 12:52806549-52814116; 12:52949118-52952906; 12:53099659-53724525; 12:53220495-53578018; 12:53224025-54222450; 12:53306794-53321761; 12:53307460-53321610; 12:53320546-53321465; 12:53326575-53344793; 12:53390915-54347579; 12:53425086-53431672; 12:53914411-53942031; 12:53938831-53946544; 12:54280726-54287087; 12:54284195-54284353; 12:54498778-54548243; 12:55684568-55716400; 12:55697675-55699446; 12:55697676-55698937; 12:55720393-55724705; 12:55835433-55842936; 12:55997276-56005525; 12:56002223-56002740; 12:56002223-56044154; 12:56031045-56051500; 12:56041918-56044697; 12:56041919-56044697; 12:56083314-56103505; 12:56171322-56189483; 12:56230717-56237846; 12:56349169-56360107; 12:56449659-56456553; 12:56670276-58920235; 12:56731580-56752323; 12:56923133-56934408; 12:57010000-57016529; 12:57013356-63042498; 12:57041159-60273934; 12:57099996-57111362; 12:57128483-57213361; 12:57188381-58638197; 12:57231475-57234935; 12:57237291-57842814; 12:57244088-57251187; 12:57460277-57472268; 12:57489491-57516652; 12:57550044-57586633; 12:57629329-57633201; 12:57762334-57767078; 12:57782787-57802856; 12:57782793-57782868; 12:57782793-57793083; 12:57791946-57793093; 12:57791956-57796593; 12:57792977-57793083; 12:57792977-57796593; 12:57802954-57818734; 12:59089723-59089722; 12:60907152-66568077; 12:63558914-63669201; 12:63595967-63596037; 12:63612272-63668493; 12:63782541-63809562; 12:64215679-69958323; 12:64452120-64502114; 12:64455872-64460349; 12:64455872-65463322; 12:64474231-64501381; 12:64481823-64486037; 12:64713449-64759406; 12:64739372-64747928; 12:64857926-74869599; 12:65169583-65248355; 12:65169584-65248355; 12:65305105-65466907; 12:65326807-65328623; 12:65445177-71026337; 12:65651866-68478563; 12:65806998-66181477; 12:65824483-65966291; 12:66347431-67069338; 12:68011418-75383054; 12:68178607-70440088; 12:68610899-68671901; 12:68687067-68702804; 12:68713730-68745809; 12:69214311-89235568; 12:69348381-69354234; 12:69690697-76671984; 12:69769738-76964217; 12:70029315-70599455; 12:70051306-71116195; 12:70181697-72950879; 12:70194956-70973089; 12:70278132-70354993; 12:70278538-70363561; 12:70337485-81761145; 12:73485698-92795805; 12:75191882-75208004; 12:75683699-80195649; 12:76344474-76348415; 12:76345804-76348368; 12:76566874-82021089; 12:77343844-93936750; 12:79045692-79452008; 12:79773568-79935460; 12:79793864-79828464; 12:79845283-79934931; 12:80217330-80380880; 12:80238803-80331073; 12:80238803-80334477; 12:80238886-80339032; 12:80278171-80336529; 12:80320403-80320720; 12:80367491-80378127; 12:80393098-81021534; 12:80444235-80680273; 12:80490010-80782131; 12:80530109-80719071; 12:80538485-80798086; 12:80669007-80669463; 12:80716912-80719671; 12:85280220-85301784; 12:86902560-89907274; 12:87983104-88507137; 12:88049185-88059040; 12:88049382-88085170; 12:88053643-88054423; 12:88058829-88101183; 12:88058839-88060030; 12:88064143-88142088; 12:88071275-88071946; 12:88077213-88079239; 12:88086020-88121186; 12:88107100-88114419; 12:88117024-88117155; 12:88118474-88125379; 12:88130289-88130341; 12:88130290-88130340; 12:88142307-88199887; 12:88492793-88580471; 12:88516335-89591295; 12:89347235-89352501; 12:89419718-89526047; 12:89421154-89421277; 12:89459619-89472295; 12:89611381-89708838; 12:90996509-94872818; 12:91050491-91058024; 12:91143277-91178646; 12:93678769-93738636; 12:93849951-93850271; 12:94368395-94460454; 12:94400831-94412490; 12:94971333-95003697; 12:98593686-98606367; 12:99772923-99782097 P_loss_source : CLN:1053674; CLN:1053684; CLN:1053685; CLN:108417; CLN:1319957; CLN:1457646; CLN:1497314; CLN:2419797; CLN:2843200; CLN:2861361; CLN:462157; CLN:511999; CLN:565438; CLN:623680; CLN:794043; CLN:964675; HI3:ACVRL1; HI3:ARID2; HI3:COL2A1; HI3:HNF1A; HI3:KMT2D; HI3:LEMD3; HI3:MED13L; HI3:PKP2; HI3:PTPN11; HI3:RPS26; HI3:TBX3; HI3:TBX5; dbVar:nssv15119635; nssv17059609; dbVar:nssv15119764; dbVar:nssv15119982; dbVar:nssv15120270; dbVar:nssv15120280; dbVar:nssv15120281; dbVar:nssv15120282; dbVar:nssv15123508; dbVar:nssv15124438; dbVar:nssv15124484; dbVar:nssv15125174; dbVar:nssv15126587; dbVar:nssv15128576; dbVar:nssv15129203; dbVar:nssv15129211; dbVar:nssv15129276; dbVar:nssv15129308; dbVar:nssv15129895; dbVar:nssv15130056; dbVar:nssv15130108; dbVar:nssv15130109; dbVar:nssv15130212; dbVar:nssv15130213; dbVar:nssv15130233; dbVar:nssv15130888; dbVar:nssv15131572; dbVar:nssv15131657; dbVar:nssv15132060; dbVar:nssv15132133; dbVar:nssv15132394; dbVar:nssv15132601; dbVar:nssv15133179; dbVar:nssv15133180; dbVar:nssv15133446; dbVar:nssv15134545; dbVar:nssv15135598; dbVar:nssv15136150; dbVar:nssv15136921; dbVar:nssv15137746; dbVar:nssv15138236; dbVar:nssv15138718; dbVar:nssv15139303; dbVar:nssv15139461; dbVar:nssv15140779; dbVar:nssv15143997; dbVar:nssv15144245; dbVar:nssv15144634; nssv18326715; dbVar:nssv15144750; dbVar:nssv15144775; dbVar:nssv15144825; dbVar:nssv15145687; dbVar:nssv15145689; dbVar:nssv15145770; dbVar:nssv15146017; dbVar:nssv15146019; dbVar:nssv15146233; dbVar:nssv15146234; dbVar:nssv15146235; dbVar:nssv15146438; dbVar:nssv15146750; dbVar:nssv15146766; dbVar:nssv15147135; dbVar:nssv15147301; dbVar:nssv15147333; dbVar:nssv15147576; nssv18830881; dbVar:nssv15147808; dbVar:nssv15148155; dbVar:nssv15149447; dbVar:nssv15150216; dbVar:nssv15150399; dbVar:nssv15151071; dbVar:nssv15151618; dbVar:nssv15151619; dbVar:nssv15151620; dbVar:nssv15151908; dbVar:nssv15151973; dbVar:nssv15153891; dbVar:nssv15157345; dbVar:nssv15157811; dbVar:nssv15161651; dbVar:nssv15222906; dbVar:nssv15222951; dbVar:nssv15605785; dbVar:nssv15605920; dbVar:nssv15605921; dbVar:nssv15755140; dbVar:nssv15755147; dbVar:nssv15770049; dbVar:nssv15770107; dbVar:nssv15770275; dbVar:nssv15770298; dbVar:nssv15770355; dbVar:nssv15770480; dbVar:nssv15770674; dbVar:nssv15770821; dbVar:nssv15771022; dbVar:nssv15771053; dbVar:nssv15771854; dbVar:nssv15772818; dbVar:nssv15774680; dbVar:nssv15774873; dbVar:nssv15775824; dbVar:nssv15775958; dbVar:nssv15776176; dbVar:nssv16091761; dbVar:nssv16091781; dbVar:nssv16207668; dbVar:nssv16207686; dbVar:nssv16208340; dbVar:nssv16208342; dbVar:nssv16208355; dbVar:nssv16208356; dbVar:nssv16208357; nssv16296980; dbVar:nssv16208669; dbVar:nssv16211823; dbVar:nssv16212003; dbVar:nssv16212093; dbVar:nssv16212451; dbVar:nssv16212577; dbVar:nssv16212701; dbVar:nssv16212702; dbVar:nssv16212901; dbVar:nssv16213251; dbVar:nssv16213650; dbVar:nssv16213855; dbVar:nssv16213879; dbVar:nssv16213932; dbVar:nssv16213957; dbVar:nssv16214006; dbVar:nssv16214183; dbVar:nssv16214268; dbVar:nssv16214307; dbVar:nssv16214579; dbVar:nssv16214597; dbVar:nssv16214609; dbVar:nssv16215079; dbVar:nssv16215080; dbVar:nssv16215138; dbVar:nssv16215294; dbVar:nssv16215297; dbVar:nssv16216512; dbVar:nssv16216585; dbVar:nssv16254432; dbVar:nssv16255449; dbVar:nssv16255452; dbVar:nssv16296925; dbVar:nssv16296981; dbVar:nssv16297044; dbVar:nssv16297108; dbVar:nssv16297133; dbVar:nssv16297140; dbVar:nssv16596335; nssv16596345; dbVar:nssv16866485; dbVar:nssv16867369; dbVar:nssv16867402; dbVar:nssv17059581; dbVar:nssv17059592; dbVar:nssv17059610; dbVar:nssv17171364; dbVar:nssv17171452; dbVar:nssv17171453; dbVar:nssv17171637; dbVar:nssv17171757; dbVar:nssv17171758; dbVar:nssv17171759; dbVar:nssv17171760; dbVar:nssv17171764; dbVar:nssv17171937; dbVar:nssv17172113; dbVar:nssv17172197; dbVar:nssv17172242; dbVar:nssv17172884; dbVar:nssv17173016; dbVar:nssv17517461; dbVar:nssv17517462; dbVar:nssv17649865; dbVar:nssv17649976; dbVar:nssv17955474; dbVar:nssv17955483; dbVar:nssv17955581; dbVar:nssv17955823; dbVar:nssv17955829; dbVar:nssv17955840; dbVar:nssv17955914; dbVar:nssv17956173; dbVar:nssv17956485; dbVar:nssv17956942; dbVar:nssv17957078; dbVar:nssv17957131; dbVar:nssv17968707; dbVar:nssv17968917; dbVar:nssv17968931; dbVar:nssv17968937; dbVar:nssv17968938; dbVar:nssv17968968; dbVar:nssv17968972; dbVar:nssv17969530; dbVar:nssv17969552; dbVar:nssv17969555; dbVar:nssv17969556; dbVar:nssv17969560; dbVar:nssv17970902; dbVar:nssv17970986; dbVar:nssv17971165; dbVar:nssv17971276; dbVar:nssv17971305; dbVar:nssv17971379; dbVar:nssv17971432; dbVar:nssv17971508; dbVar:nssv17971813; dbVar:nssv17972029; dbVar:nssv17972090; dbVar:nssv17972203; dbVar:nssv17972275; dbVar:nssv17972409; dbVar:nssv17972537; dbVar:nssv17972710; dbVar:nssv17972728; dbVar:nssv17972980; dbVar:nssv17973463; dbVar:nssv17973798; dbVar:nssv17973863; dbVar:nssv17974027; dbVar:nssv17974049; dbVar:nssv17974237; dbVar:nssv17974410; dbVar:nssv17975070; dbVar:nssv17975071; dbVar:nssv17975150; dbVar:nssv17975160; dbVar:nssv17976033; dbVar:nssv17976251; dbVar:nssv17976697; dbVar:nssv18326336; dbVar:nssv18326467; dbVar:nssv18326636; dbVar:nssv18330229; dbVar:nssv18330305; dbVar:nssv18786358; dbVar:nssv18786731; dbVar:nssv18786732; dbVar:nssv18786794; dbVar:nssv18786958; dbVar:nssv18787174; dbVar:nssv18787329; dbVar:nssv18787499; dbVar:nssv18787500; dbVar:nssv18787644; dbVar:nssv18787645; dbVar:nssv18787646; dbVar:nssv18787647; dbVar:nssv18787718; dbVar:nssv18787735; dbVar:nssv18787736; dbVar:nssv18787737; dbVar:nssv18787958; dbVar:nssv18787959; dbVar:nssv18788310; dbVar:nssv18788404; dbVar:nssv18788740; dbVar:nssv18788907; dbVar:nssv18789187; dbVar:nssv18789227; dbVar:nssv18789491; dbVar:nssv18789887; dbVar:nssv18789888; dbVar:nssv18789889; dbVar:nssv18789890; dbVar:nssv18790025; dbVar:nssv18790162; dbVar:nssv18790174; dbVar:nssv18790303; dbVar:nssv18790775; dbVar:nssv18790832; dbVar:nssv18790880; dbVar:nssv18790975; dbVar:nssv18790984; dbVar:nssv18791333; dbVar:nssv18791713; dbVar:nssv18791811; dbVar:nssv18791999; dbVar:nssv18792000; dbVar:nssv18792105; dbVar:nssv18792554; dbVar:nssv18792566; dbVar:nssv18792598; dbVar:nssv18792607; dbVar:nssv18792789; dbVar:nssv18792790; dbVar:nssv18792853; dbVar:nssv18792892; dbVar:nssv18830870; dbVar:nssv18830971; dbVar:nssv18841889; dbVar:nssv8639447; morbid:AAAS; morbid:ACADS; morbid:ACVR1B; morbid:ACVRL1; morbid:ADCY6; morbid:ALDH2; morbid:ALX1; morbid:AMHR2; morbid:ANAPC7; morbid:ANO6; morbid:AQP2; morbid:AQP5; morbid:ARID2; morbid:ATP2A2; morbid:ATP2B1; morbid:ATP6V0A2; morbid:ATXN2; morbid:AVIL; morbid:B4GALNT1; morbid:BBS10; morbid:CCDC65; morbid:CEP290; morbid:CEP83; morbid:CFAP251; morbid:CIT; morbid:CNOT2; morbid:COL2A1; morbid:COX6A1; morbid:CRADD; morbid:CUX2; morbid:CYP27B1; morbid:DCN; morbid:DDX11; morbid:DHH; morbid:DHX37; morbid:DIABLO; morbid:DIP2B; morbid:DNAH10; morbid:DNM1L; morbid:DPY19L2; morbid:DUSP6; morbid:EIF2B1; morbid:ERBB3; morbid:FGD4; morbid:GATC; morbid:GLI1; morbid:GNPTAB; morbid:GNS; morbid:GPD1; morbid:GRIP1; morbid:HECTD4; morbid:HMGA2; morbid:HNF1A; morbid:HNRNPA1; morbid:HOXC13; morbid:HPD; morbid:HSPB8; morbid:IFT81; morbid:IGF1; morbid:IRAK4; morbid:ISCU; morbid:ITGA7; morbid:KCNC2; morbid:KERA; morbid:KIF21A; morbid:KIF5A; morbid:KITLG; morbid:KMT2D; morbid:KRT1; morbid:KRT18; morbid:KRT2; morbid:KRT3; morbid:KRT4; morbid:KRT5; morbid:KRT6A; morbid:KRT6B; morbid:KRT6C; morbid:KRT74; morbid:KRT81; morbid:KRT83; morbid:KRT85; morbid:KRT86; morbid:LEMD3; morbid:LRP1; morbid:LYZ; morbid:MAPKAPK5; morbid:MARS1; morbid:MED13L; morbid:MIP; morbid:MMAB; morbid:MMP19; morbid:MSRB3; morbid:MTRFR; morbid:MVK; morbid:MYBPC1; morbid:MYF5; morbid:MYL2; morbid:NCKAP1L; morbid:NDUFA12; morbid:NOS1; morbid:NR1H4; morbid:NUP107; morbid:OAS1; morbid:ORAI1; morbid:OTOGL; morbid:PAH; morbid:PFKM; morbid:PKP2; morbid:POC1B; morbid:POLR3B; morbid:PPP1R12A; morbid:PRICKLE1; morbid:PRIM1; morbid:PRPH; morbid:PTPN11; morbid:PTPRQ; morbid:PXN; morbid:RAP1B; morbid:RDH5; morbid:RILPL1; morbid:RPS26; morbid:RXYLT1; morbid:SCN8A; morbid:SCYL2; morbid:SDR9C7; morbid:SDS; morbid:SETD1B; morbid:SH2B3; morbid:SHMT2; morbid:SLC11A2; morbid:SLC17A8; morbid:SLC25A3; morbid:SLC39A5; morbid:SMARCC2; morbid:SMARCD1; morbid:SP7; morbid:STAC3; morbid:STAT2; morbid:STAT6; morbid:SUOX; morbid:SYCP3; morbid:SYT1; morbid:TAC3; morbid:TBK1; morbid:TBX3; morbid:TBX5; morbid:TCTN2; morbid:TMTC3; morbid:TRPV4; morbid:TSFM; morbid:TUBA1A; morbid:UBE3B; morbid:UNG; morbid:VDR; morbid:VPS33A; morbid:WASHC4; morbid:WNT1; morbid:WNT10B; morbid:YARS2 P_loss_phen : 46XY gonadal dysgenesis with minifascicular neuropathy, 607080 (3) AR; 46XY sex reversal 7, 233420 (3) AR; 46XY sex reversal 11, 273250 (3) AD; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3) AR; ?Avascular necrosis of femoral head, primary, 2, 617383 (3) AD; Brachyolmia type 3, 113500 (3) AD; Digital arthropathy-brachydactyly, familial, 606835 (3) AD; Hereditary motor and sensory neuropathy, type IIc, 606071 (3) AD; Metatropic dysplasia, 156530 (3) AD; Neuronopathy, distal hereditary motor, AD 8, 600175 (3) AD; Parastremmatic dwarfism, 168400 (3) AD; SED, Maroteaux type, 184095 (3) AD; Scapuloperoneal spinal muscular atrophy, 181405 (3) AD; Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3) AD; Sodium serum level QTL 1, 613508 (3); ?Bardet-Biedl syndrome 14, 615991 (3) AR; Joubert syndrome 5, 610188 (3) AR; Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3) AR; Senior-Loken syndrome 6, 610189 (3) AR; ?Ectodermal dysplasia 7, hair; nail type, 614929 (3) AR; ?Hypotrichosis 3, 613981 (3) AD; Woolly hair, AD, 194300 (3) AD; ?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) AD; ?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248 (3) AD; Achondrogenesis, type II or hypochondrogenesis, 200610 (3) AD; Avascular necrosis of the femoral head, 608805 (3) AD; Czech dysplasia, 609162 (3) AD; Kniest dysplasia, 156550 (3) AD; Legg-Calve-Perthes disease, 150600 (3) AD; Osteoarthritis with mild chondrodysplasia, 604864 (3) AD; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) AD; SED congenita, 183900 (3) AD; SMED Strudwick type, 184250 (3) AD; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) AD; Spondyloperipheral dysplasia, 271700 (3) AD; Stickler syndrome, type I, 108300 (3) AD; Stickler syndrome, type I, nonsyndromic ocular, 609508 (3) AD; ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3) AD; ?Myopathy, distal, 3, 610099 (3) AD; Amyotrophic lateral sclerosis 20, 615426 (3) AD; ?Keratosis pilaris atrophicans, 604093 (3) AR; Developmental dysplasia of the hip 3, 620690 (3) AD; ?Lethal congenital contractural syndrome 2, 607598 (3) AR; Visceral neuropathy, familial, 1, AR, 243180 (3) AR; ?Erythroleukemia, familial, susceptibility to, 133180 (3) AD; ?Meckel syndrome 8, 613885 (3) AR; Joubert syndrome 24, 616654 (3) AR; ?Myoclonus, familial, 2, 618364 (3) AD; Cognitive impairment with or without cerebellar ataxia, 614306 (3) AD; Developmental and epileptic encephalopathy 13, 614558 (3) AD; Seizures, benign familial infantile, 5, 617080 (3) AD; ?Ovarian dysgenesis 6, 618078 (3) AR; Galloway-Mowat syndrome 7, 618348 (3) AR; Nephrotic syndrome, type 11, 616730 (3) AR; ?Trichothiodystrophy 9, nonphotosensitive, 619692 (3) AR; Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3) AD; Interstitial lung and liver disease, 615486 (3) AR; Spastic paraplegia 70, AR, 620323 (3) AR; Achalasia-addisonianism-alacrimia syndrome, 231550 (3) AR; Acrokeratosis verruciformis, 101900 (3) AD; Darier disease, 124200 (3) AD; Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) AR; Alcohol sensitivity, acute, 610251 (3) AD; Esophageal cancer, alcohol-related, susceptibility to (3); Hangover, susceptibility to, 610251 (3) AD; Sublingual nitroglycerin, susceptibility to poor response to (3); Amyloidosis, renal, 105200 (3) AD; Amyotrophic lateral sclerosis, susceptibility to, 105400 (3) AR,AD; Anemia, hypochromic microcytic, with iron overload 1, 206100 (3) AR; Arrhythmogenic right ventricular dysplasia 9, 609040 (3) AD; Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, 618766 (3) AR; Arthrogryposis, distal, type 1B, 614335 (3) AD; Congenital myopathy 16, 618524 (3) AD; Lethal congenital contracture syndrome 4, 614915 (3) AR; Baker-Gordon syndrome, 618218 (3) AD; Bardet-Biedl syndrome 10, 615987 (3) AR; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome, 620186 (3) AD; Kabuki syndrome 1, 147920 (3) AD; Buschke-Ollendorff syndrome, 166700 (3) AD; Osteopoikilosis with or without melorheostosis, 166700 (3) AD; Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome; Cardiomyopathy; Cardiomyopathy, hypertrophic, 10, 608758 (3) AD; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, 619424 (3) AR; Cardiovascular_phenotype|Arrhythmogenic_right_ventricular_dysplasia_9; Cataract 15, multiple types, 615274 (3) AD; Cavitary optic disc anomalies, 611543 (3) AD; Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3) AD; Neuronopathy, distal hereditary motor, AD 2, 158590 (3) AD; Charcot-Marie-Tooth disease, demyelinating, type 1I, 619742 (3) AD; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and; or hypogonadotropic hypogonadism, 614381 (3) AR; Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3) AR; Charcot-Marie-Tooth disease, type 4H, 609311 (3) AR; Cholestasis, progressive familial intrahepatic, 5, 617049 (3) AR; Ciliary dyskinesia, primary, 27, 615504 (3) AR; Cirrhosis, cryptogenic, 215600 (3) AR; Cirrhosis, noncryptogenic, susceptibility to, 215600 (3) AR; Coffin-Siris syndrome 11, 618779 (3) AD; Coffin-Siris syndrome 6, 617808 (3) AD; Coffin-Siris syndrome 8, 618362 (3) AD; Combined oxidative phosphorylation deficiency 3, 610505 (3) AR; Combined oxidative phosphorylation deficiency 42, 618839 (3) AR; Combined oxidative phosphorylation deficiency 7, 613559 (3) AR; Spastic paraplegia 55, AR, 615035 (3) AR; Cone-rod dystrophy 20, 615973 (3) AR; Congenital myopathy 13, 255995 (3) AR; Cornea plana 2, AR, 217300 (3) AR; Corneal dystrophy, congenital stromal, 610048 (3) AD; Cutis laxa, AR, type IIA, 219200 (3) AR; Wrinkly skin syndrome, 278250 (3) AR; Deafness, AD 25, 605583 (3) AD; Deafness, AD 64, 614152 (3) AD; Deafness, AD 69, unilateral or asymmetric, 616697 (3) AD; Hyperpigmentation with or without hypopigmentation, 145250 (3) AD; Waardenburg syndrome, type 2F, 619947 (3) AR; Skin; hair; eye pigmentation 7, blond; brown hair, 611664 (3); Deafness, AD 73, 617663 (3) AD; Deafness, AR 84A, 613391 (3) AR; Deafness, AR 74, 613718 (3) AR; Deafness, AR 84B, 614944 (3) AR; Developmental and epileptic encephalopathy 103, 619913 (3) AD; Developmental and epileptic encephalopathy 67, 618141 (3) AD; Diabetes insipidus, nephrogenic, 2, 125800 (3) AR,AD; Diabetes mellitus, insulin-dependent, 20, 612520 (3); Hepatic adenoma, somatic, 142330 (3); MODY, type III, 600496 (3) AD; Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 222100 (3) AR; Diabetes mellitus, noninsulin-dependent, 2, 125853 (3) AD; Diamond-Blackfan anemia 10, 613309 (3) AD; Dowling-Degos disease 1, 179850 (3) AD; Epidermolysis bullosa simplex 2A, generalized severe, 619555 (3) AD; Epidermolysis bullosa simplex 2B, generalized intermediate, 619588 (3) AD; Epidermolysis bullosa simplex 2C, localized, 619594 (3) AD; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR, 619599 (3) AR; Epidermolysis bullosa simplex 2E, with migratory circinate erythema, 609352 (3) AD; Epidermolysis bullosa simplex 2F, with mottled pigmentation, 131960 (3) AD; Ectodermal dysplasia 4, hair; nail type, 602032 (3) AR; Ectodermal dysplasia 9, hair; nail type, 614931 (3) AR; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3) AR,AD; Optic atrophy 5, 610708 (3) AD; Epidermolytic hyperkeratosis 1, 113800 (3) AD; Ichthyosis histrix, Curth-Macklin type, 146590 (3) AD; Ichthyosis, annular epidermolytic 2, 620148 (3) AD; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 2, 620411 (3) AD; Palmoplantar keratoderma, nonepidermolytic, 600962 (3) AD; Epilepsy, progressive myoclonic 1B, 612437 (3) AR; Erythrocytosis, somatic, 133100 (3); Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3); Erythrokeratodermia variabilis et progressiva 5, 617756 (3) AR; Monilethrix, 158000 (3) AD; Ferguson-Bonni neurodevelopmental syndrome, 619699 (3) AR; Fibrosis of extraocular muscles, congenital, 1, 135700 (3) AD; Fibrosis of extraocular muscles, congenital, 3B, 135700 (3) AD; Fraser syndrome 3, 617667 (3) AR; Frontonasal dysplasia 3, 613456 (3) AR; Frontotemporal dementia and; or amyotrophic lateral sclerosis 4, 616439 (3) AD; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8, 617900 (3) AD; Fundus albipunctatus, 136880 (3) AR,AD; Genitourinary and; or; brain malformation syndrome, 618820 (3) AD; Glycogen storage disease VII, 232800 (3) AR; Hawkinsinuria, 140350 (3) AD; Tyrosinemia, type III, 276710 (3) AR; Holt-Oram syndrome, 142900 (3) AD; Hyper-IgD syndrome, 260920 (3) AR; Mevalonic aciduria, 610377 (3) AR; Porokeratosis 3, multiple types, 175900 (3) AD; Hyper-IgE syndrome 6, AD, with recurrent infections, 620532 (3) AD; Hypertriglyceridemia, transient infantile, 614480 (3) AR; Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3) AR; Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3) AD; Ichthyosis bullosa of Siemens, 146800 (3) AD; Ichthyosis, congenital, AR 13, 617574 (3) AR; Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, 618042 (3) AD; Immunodeficiency 44, 616636 (3) AR; Pseudo-TORCH syndrome 3, 618886 (3) AR; Immunodeficiency 67, 607676 (3) AR; Immunodeficiency 72 with autoinflammation, 618982 (3) AR; Immunodeficiency 9, 612782 (3) AR; Myopathy, tubular aggregate, 2, 615883 (3) AD; Immunodeficiency with hyper IgM, type 5, 608106 (3) AR; Impaired intellectual development and distinctive facial features with or without cardiac defects, 616789 (3) AD; Inborn_genetic_diseases; Insulin-like growth factor I deficiency, 608747 (3) AR; Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3) AD; Intellectual developmental disorder with seizures and language delay, 619000 (3) AD; Intellectual developmental disorder, AD 66, 619910 (3) AD; Intellectual developmental disorder, AD, FRA12A type, 136630 (3) AD; Intellectual developmental disorder, AR 34, with variant lissencephaly, 614499 (3) AR; Intellectual developmental disorder, AR 43, 615817 (3) AR; Kaufman oculocerebrofacial syndrome, 244450 (3) AR; LEOPARD syndrome 1, 151100 (3) AD; Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3) AD; Noonan syndrome 1, 163950 (3) AD; Lethal congenital contracture syndrome 8, 616287 (3) AR; Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, 603896 (3) AR; Lissencephaly 3, 611603 (3) AD; Lissencephaly 8, 617255 (3) AR; Meckel-Gruber_syndrome|Nephronophthisis|Familial_aplasia_of_the_vermis; Meesmann corneal dystrophy 2, 618767 (3) AD; Methylmalonic aciduria, vitamin B12-responsive, cblB type, 251110 (3) AR; Microcephaly 17, primary, AR, 617090 (3) AR; Mitochondrial complex I deficiency, nuclear type 23, 618244 (3) AR; Mitochondrial phosphate carrier deficiency, 610773 (3) AR; Monilethrix, 158000 (3) AD; Mucolipidosis II alpha; beta, 252500 (3) AR; Mucolipidosis III alpha; beta, 252600 (3) AR; Mucopolysaccharidosis type IIID, 252940 (3) AR; Mucopolysaccharidosis-plus syndrome, 617303 (3) AR; Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3) AR; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3) AR; Myoclonus, intractable, neonatal, 617235 (3) AD; Spastic paraplegia 10, AD, 604187 (3) AD; Amyotrophic lateral sclerosis, susceptibility to, 25, 617921 (3) AD; Myopathy with lactic acidosis, hereditary, 255125 (3) AR; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) AR; Myopia 24, AD, 615946 (3) AD; Nephronophthisis 18, 615862 (3) AR; Nephrotic syndrome, type 21, 618594 (3) AR; Neurocardiofaciodigital syndrome, 619869 (3) AR; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, 619121 (3) AR; Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, 620250 (3) AR; Neurodevelopmental_disorder; Oculopharyngodistal myopathy 4, 619790 (3) AD; Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3) AR; Osteogenesis imperfecta, type XII, 613849 (3) AR; Osteogenesis imperfecta, type XV, 615220 (3) AR; Osteoporosis, early-onset, susceptibility to, AD, 615221 (3) AD; Pachyonychia congenita 3, 615726 (3) AD; Pachyonychia congenita 4, 615728 (3) AD; Palmoplantar keratoderma, Bothnian type, 600231 (3) AD; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3) AD; Pancreatic cancer, somatic, 260350 (3); Persistent Mullerian duct syndrome, type II, 261550 (3) AR; Phenylketonuria; Phenylketonuria, 261600 (3) AR; Hyperphenylalaninemia, non-PKU mild, 261600 (3) AR; Polydactyly, postaxial, type A8, 618123 (3) AR; Polydactyly, preaxial I, 174400 (3) AR; Pregnancy loss, recurrent, 4, 270960 (3) AD; Spermatogenic failure 4, 270960 (3) AD; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, 620005 (3) AR; Rickets, vitamin D-resistant, type IIA, 277440 (3) AR; Scott syndrome, 262890 (3) AR; Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3) AR; Silver-Russell syndrome 5, 618908 (3) AD; Spastic paraplegia 26, AR, 609195 (3) AR; Spermatogenic failure 33, 618152 (3) AR; Spermatogenic failure 56, 619515 (3) AR; Spermatogenic failure 9, 613958 (3) AR; Spinocerebellar ataxia 2, 183090 (3) AD; Amyotrophic lateral sclerosis, susceptibility to, 13, 183090 (3) AD; Parkinson disease, late-onset, susceptibility to, 168600 (3) Multifactorial,AD; Split-hand; foot malformation 6, 225300 (3) AR; Tooth agenesis, selective, 8, 617073 (3) AD; Stickler_syndrome_type_1; Sulfite oxidase deficiency, 272300 (3) AR; Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3) AD; Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, 620654 (3) AD; Ulnar-mammary syndrome, 181450 (3) AD; Vitamin D-dependent rickets, type I, 264700 (3) AR; Warsaw breakage syndrome, 613398 (3) AR; White sponge nevus 1, 193900 (3) AD; |Maturity_onset_diabetes_mellitus_in_young; |Phenylketonuria P_loss_hpo : HP:0000090; HP:0001638; HP:0004748; HP:0004904 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15131918; dbVar:nssv15132729 po_P_loss_coord : 12:25263834-34064528; 12:131650543-133191400 po_P_loss_percent : 37.16; 7.21 |
4753P_snvindel_nb : 4753 P_snvindel_phen : 46,XY_gonadal_dysgenesis-motor_and_sensory_neuropathy_syndrome; 46,XY_sex_reversal_11; 46,XY_sex_reversal_7; 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency; ACADS-related_condition; ACVRL1-Related_Disorders; ACVRL1-related_condition; ALG9_congenital_disorder_of_glycosylation; ANO6-related_condition; ARID2-related_BAFopathy; Abnormal_bleeding; Abnormal_brain_morphology; Abnormal_brainstem_morphology; Abnormal_cardiovascular_system_morphology; Abnormal_cortical_gyration; Abnormal_facial_shape; Abnormal_pinna_morphology; Abnormality_of_metabolism/homeostasis; Abnormality_of_neuronal_migration; Abnormality_of_prenatal_development_or_birth; Abnormality_of_the_dentition; Abnormality_of_the_kidney; Abnormality_of_the_nervous_system; Abnormality_of_the_pulmonary_vasculature; Abnormality_of_the_skeletal_system; Aborted_sudden_cardiac_death; Absent_vertebral_body_mineralization; Acetabular_dysplasia; Achalasia-alacrima_syndrome; Achondrogenesis_type_II; Acrokeratosis_verruciformis_of_Hopf; Acute_myeloid_leukemia; Amyotrophic_lateral_sclerosis; Amyotrophic_lateral_sclerosis,_susceptibility_to,_25; Annular_epidermolytic_ichthyosis; Anomalous_origin_of_coronary_artery_from_the_pulmonary_artery; Aortic_valve_disease_2; Arrhythmogenic_right_ventricular_cardiomyopathy; Arrhythmogenic_right_ventricular_dysplasia_1; Arrhythmogenic_right_ventricular_dysplasia_9; Arrhythmogenic_ventricular_cardiomyopathy; Arthrogryposis_multiplex_congenita_4,_neurogenic,_with_agenesis_of_the_corpus_callosum; Asphyxiating_thoracic_dystrophy_3; Astrocytoma; Atrial_septal_defect,_ostium_secundum_type; Atrophy/Degeneration_affecting_the_central_nervous_system; Autism; Autism_spectrum_disorder; Autoinflammatory_syndrome; Autosomal_dominant_Parkinson_disease_8; Autosomal_dominant_rhegmatogenous_retinal_detachment; Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D; Autosomal_recessive_nonsyndromic_hearing_loss_74; Autosomal_recessive_nonsyndromic_hearing_loss_84A; Autosomal_recessive_nonsyndromic_hearing_loss_84B; Avascular_necrosis_of_femoral_head,_primary,_1; Avascular_necrosis_of_femoral_head,_primary,_2; B-cell_chronic_lymphocytic_leukemia; BBS10-related_condition; B_lymphoblastic_leukemia_lymphoma,_no_ICD-O_subtype; Babinski_sign; Bailey-Bloch_congenital_myopathy; Bardet-Biedl_syndrome; Bardet-Biedl_syndrome_1; Bardet-Biedl_syndrome_10; Bardet-Biedl_syndrome_14; Bardet-biedl_syndrome_1/10,_digenic; Bardet-biedl_syndrome_6/10,_digenic; Beaded_hair; Bifid_uvula; Blepharophimosis_-_intellectual_disability_syndrome; Blindness; Bone_marrow_hypocellularity; Brachycephaly; Brachyrachia_(short_spine_dysplasia); Bullous_ichthyosiform_erythroderma; CBL-related_disorder; CEP290-Related_Disorders; CEP290-related_ciliopathy; CEP290-related_condition; CFAP251-related_condition; CHARGE_association; COG7_congenital_disorder_of_glycosylation; COGNITIVE_IMPAIRMENT_WITHOUT_CEREBELLAR_ATAXIA; COL2A1-related_condition; COL2A1-related_disorders; COL2A1-related_skeletal_dysplasia; CUX2-related_condition; Cafe-au-lait_spot; Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome; Cardiac_arrhythmia; Cardiomyopathy; Cardiomyopathy,_mitochondrial; Cardiomyopathy-hypotonia-lactic_acidosis_syndrome; Cardiovascular_phenotype; Cataract_15_multiple_types; Cavernous_sinus_meningioma; Central_hypotonia; Cerebellar_cyst; Cerebellar_vermis_hypoplasia; Cerebral_arteriovenous_malformation; Cerebral_palsy; Charcot-Marie-Tooth_disease; Charcot-Marie-Tooth_disease,_demyelinating,_IIA_1I; Charcot-Marie-Tooth_disease_axonal_type_2C; Charcot-Marie-Tooth_disease_axonal_type_2L; Charcot-Marie-Tooth_disease_axonal_type_2U; Charcot-Marie-Tooth_disease_recessive_intermediate_D; Charcot-Marie-Tooth_disease_type_4; Charcot-Marie-Tooth_disease_type_4H; Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome; Cholestasis,_progressive_familial_intrahepatic,_5; Clear_cell_carcinoma_of_kidney; Clinodactyly; Clinodactyly_of_the_5th_finger; Clubfoot; Coffin-Siris_syndrome_11; Coffin-Siris_syndrome_6; Coffin-Siris_syndrome_8; Cognitive_impairment_with_or_without_cerebellar_ataxia; Combined_immunodeficiency_due_to_ORAI1_deficiency; Combined_oxidative_phosphorylation_defect_type_7; Combined_oxidative_phosphorylation_deficiency_42; Complement_component_C1s_deficiency; Compton-North_congenital_myopathy; Cone-rod_dystrophy; Cone-rod_dystrophy_20; Congenital_bilateral_perisylvian_syndrome; Congenital_blindness; Congenital_fibrosis_of_extraocular_muscles; Congenital_fibrosis_of_extraocular_muscles_type_1; Congenital_ichthyosis_of_skin; Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency; Congenital_stationary_night_blindness; Connective_tissue_disorder; Cornea_plana_2; Corpus_callosum,_agenesis_of; Cough; Cryptorchidism; Cutis_laxa; Cutis_laxa_with_osteodystrophy; Cystic_renal_dysplasia; Czech_dysplasia,_metatarsal_type; Dandy-Walker_syndrome; Darier_disease,_acral_hemorrhagic_type; Darier_disease,_segmental; Death_in_early_adulthood; Decreased_head_circumference; Deficiency_of_butyryl-CoA_dehydrogenase; Delayed_early-childhood_social_milestone_development; Delayed_speech_and_language_development; Depressed_nasal_ridge; Dermatofibrosis_lenticularis_disseminata; Dermatofibrosis_lenticularis_disseminata,_isolated; Desmoplastic/nodular_medulloblastoma; Developmental_and_epileptic_encephalopathy,_13; Developmental_and_epileptic_encephalopathy,_67; Developmental_cataract; DiGeorge_syndrome; Diabetes_insipidus,_nephrogenic,_autosomal; Diabetes_mellitus; Diabetes_mellitus_type_1; Diamond-Blackfan_anemia; Diamond-Blackfan_anemia_10; Diamond-Blackfan_anemia_15_with_mandibulofacial_dysostosis; Diffuse_nonepidermolytic_palmoplantar_keratoderma; Distal_spinal_muscular_atrophy; Dowling-Degos_disease_1; Dysplastic_pulmonary_valve; Dystonic_disorder; EMG_abnormality; Early_T_cell_progenitor_acute_lymphoblastic_leukemia; Early_infantile_epileptic_encephalopathy_with_suppression_bursts; Early_onset_focal_segmental_glomerulosclerosis; Encephalocele; Encephalopathy,_acute,_infection-induced_(herpes-specific),_susceptibility_to,_8; Encephalopathy,_lethal,_due_to_defective_mitochondrial_peroxisomal_fission_1; Epicanthus; Epidermolysis_bullosa; Epidermolysis_bullosa_simplex; Epidermolysis_bullosa_simplex,_Koebner_type; Epidermolysis_bullosa_simplex_1A,_generalized_severe; Epidermolysis_bullosa_simplex_1C,_localized; Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive; Epidermolysis_bullosa_simplex_2A,_generalized_severe; Epidermolysis_bullosa_simplex_2B,_generalized_intermediate; Epidermolysis_bullosa_simplex_2C,_localized; Epidermolysis_bullosa_simplex_with_migratory_circinate_erythema; Epidermolysis_bullosa_simplex_with_mottled_pigmentation; Epidermolytic_hyperkeratosis_1; Epidermolytic_palmoplantar_keratoderma; Epilepsy; Epilepsy,_progressive_myoclonic,_1B; Epileptic_encephalopathy; Epistaxis; Exfoliative_ichthyosis; Failure_to_thrive; Familial_aplasia_of_the_vermis; Familial_digital_arthropathy-brachydactyly; Familial_isolated_arrhythmogenic_right_ventricular_dysplasia; Familial_melanoma; Familial_visceral_amyloidosis,_Ostertag_type; Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3; Fibrosis_of_extraocular_muscles,_congenital,_3b; Foot_polydactyly; Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_4; Fundus_albipunctatus,_autosomal_recessive; GNPTAB-Related_Disorders; GNPTAB-related_disorder; Galloway-Mowat_syndrome_7; Genitourinary_and/or_brain_malformation_syndrome; Global_developmental_delay; Glucocorticoid_deficiency_with_achalasia; Glycogen_storage_disease; Glycogen_storage_disease,_type_VII; HNF1A-related_condition; Hawkinsinuria; Hearing_impairment; Heart,_malformation_of; Hepatic_adenomas,_familial; Hereditary_cancer-predisposing_syndrome; Hereditary_motor_neuron_disease; Hereditary_myopathy_with_lactic_acidosis_due_to_ISCU_deficiency; Hereditary_spastic_paraplegia; Hereditary_spastic_paraplegia_10; Hereditary_spastic_paraplegia_26; Hereditary_spastic_paraplegia_55; Herpes_simplex_encephalitis,_susceptibility_to,_1; High-frequency_hearing_impairment; High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_6; Holt-Oram_syndrome; Hyper-IgM_syndrome_type_5; Hyperechogenic_kidneys; Hyperimmunoglobulin_D_with_periodic_fever; Hyperinsulinism_due_to_HNF1A_deficiency; Hypermetabolism_due_to_Defect_in_Mitochondrial_Coupling; Hypermetabolism_due_to_uncoupled_mitochondrial_oxidative_phosphorylation_2; Hyperphenylalaninemia; Hyperreflexia; Hypertrophic_cardiomyopathy; Hypertrophic_cardiomyopathy_10; Hypogonadotropic_hypogonadism; Hypogonadotropic_hypogonadism_19_with_or_without_anosmia; Hypogonadotropic_hypogonadism_7_with_or_without_anosmia; Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism; Hypotonia; IRAK4-related_condition; Ichthyosis,_annular_epidermolytic,_2; Ichthyosis,_congenital,_autosomal_recessive_13; Ichthyosis_bullosa_of_Siemens; Ichthyosis_hystrix_of_Curth-Macklin; Immunodeficiency_67; Impaired_vibration_sensation_in_the_lower_limbs; Inborn_genetic_diseases; Infantile_hypotonia-oculomotor_anomalies-hyperkinetic_movements-developmental_delay_syndrome; Intellectual_developmental_disorder,_autosomal_dominant_66; Intellectual_developmental_disorder_with_seizures_and_language_delay; Intellectual_disability; Intellectual_disability,_FRA12A_type; Intellectual_disability,_autosomal_recessive_34; Intellectual_disability,_mild; Jeune_thoracic_dystrophy; Joubert_syndrome_1; Joubert_syndrome_13; Joubert_syndrome_24; Joubert_syndrome_5; Joubert_syndrome_and_related_disorders; Juvenile_myelomonocytic_leukemia; Juvenile_osteochondrosis_of_spine; KIF21A-related_condition; KIF5A-Related_Disorders; KIF5A-related_condition; KMT2D-related_condition; KMT2D-related_disorders; KRT1-related_condition; KRT5-related_condition; Kabuki-like_syndrome; Kabuki_syndrome; Kabuki_syndrome_1; Keratosis_follicularis; Keratosis_palmoplantaris_striata_3; Kidney_disorder; Kniest_dysplasia; Kyphosis; LEMD3-related_condition; LEOPARD_syndrome_1; LRRK2-related_condition; Leber_congenital_amaurosis; Leber_congenital_amaurosis_10; Left_ventricular_noncompaction_cardiomyopathy; Legg-Calve-Perthes_disease; Leukoencephalopathy-ataxia-hypodontia-hypomyelination_syndrome; Light_complexion; Lissencephaly; Lissencephaly_8; Lissencephaly_due_to_TUBA1A_mutation; Lissencephaly_type_3; Long_ear; Long_neck; Loss_of_ambulation; Lower_limb_amyotrophy; Lung_adenocarcinoma; Lung_cancer; Lymphoma; MED13L-Related_Disorder; MED13L-related_neurodevelopmental_disorder; MIP-related_condition; MMAB-related_condition; MVK-Related_Disorders; MVK-related_condition; MYBPC1-related_condition; MYL2-related_condition; Macular_degeneration; Male_pseudohermaphroditism; Malignant_melanoma_of_skin; Marfanoid_habitus_and_intellectual_disability; Maturity-onset_diabetes_of_the_young_type_3; Maturity_onset_diabetes_mellitus_in_young; Meckel-Gruber_syndrome; Meckel_syndrome,_type_4; Meckel_syndrome,_type_6; Meckel_syndrome,_type_8; Melanoma; Melanoma,_cutaneous_malignant,_susceptibility_to,_3; Melorheostosis_with_osteopoikilosis; Metachondromatosis; Metatropic_dysplasia; Methylmalonic_acidemia; Methylmalonic_aciduria,_cblB_type; Mevalonic_aciduria; Microcephaly; Microcephaly_17,_primary,_autosomal_recessive; Microcephaly_24,_primary,_autosomal_recessive; Microcytic_anemia_with_liver_iron_overload; Micrognathia; Mitochondrial_complex_1_deficiency,_nuclear_type_23; Mitral_regurgitation; Molar_tooth_sign_on_MRI; Monogenic_diabetes; Motor_delay; Motor_neuron_disease; Mucolipidosis; Mucolipidosis_type_II; Mucopolysaccharidosis,_MPS-III-A; Mucopolysaccharidosis,_MPS-III-D; Multiple_epiphyseal_dysplasia,_Beighton_type; Multiple_myeloma; Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_10; Myoclonus,_intractable,_neonatal; Myopathy,_congenital,_with_tremor; Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_2; Myopathy,_myofibrillar,_12,_infantile-onset,_with_cardiomyopathy; Myopathy,_tubular_aggregate,_2; Myopia; Namaqualand_hip_dysplasia; Neoplasm_of_brain; Neoplasm_of_the_large_intestine; Nephrogenic_diabetes_insipidus; Nephronophthisis; Nephronophthisis_18; Nephrotic_syndrome,_type_11; Neuroblastoma; Neurocardiofaciodigital_syndrome; Neurodevelopmental_abnormality; Neurodevelopmental_delay; Neurodevelopmental_disorder; Neurodevelopmental_disorder_with_seizures,_spasticity,_and_complete_or_partial_agenesis_of_the_corpus_callosum; Neuromuscular_disease; Neuronopathy,_distal_hereditary_motor,_autosomal_dominant; Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8; Neuronopathy,_distal_hereditary_motor,_type_2A; Night_blindness; Non-immune_hydrops_fetalis; Nonpapillary_renal_cell_carcinoma; Noonan_syndrome; Noonan_syndrome_1; Noonan_syndrome_3; Noonan_syndrome_and_Noonan-related_syndrome; Noonan_syndrome_with_multiple_lentigines; Nystagmus; Obesity; Occipital_encephalocele; Oculocerebrofacial_syndrome,_Kaufman_type; Optic_atrophy_5; Osteogenesis_imperfecta; Osteogenesis_imperfecta_type_15; Osteoporosis; Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant; Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive; PAH-related_condition; PKP2-related_condition; POLR3-related_leukodystrophy; POLR3B-related_condition; PPP1R12A-related_condition; PTPN11-related_condition; PTPN11-related_disorder; PTPN11_Related_Disorders; Pachyonychia_congenita_3; Pachyonychia_congenita_4; Pain; Palmoplantar_keratoderma,_Bothnian_type; Palmoplantar_keratoderma,_epidermolytic,_2; Palmoplantar_keratoderma,_nonepidermolytic,_focal_or_diffuse; Parastremmatic_dwarfism; Parkinson_disease,_late-onset; Patent_ductus_arteriosus; Pectus_excavatum; Persistent_Mullerian_duct_syndrome; Persistent_hyperplastic_primary_vitreous; Persistent_mullerian_duct_syndrome,_type_II; Pes_cavus; Pes_planus; Phenylketonuria; Pigmentary_retinal_dystrophy; Platyspondylic_dysplasia,_Torrance_type; Pol_III-related_leukodystrophy; Polycystic_kidney_disease; Polydactyly,_postaxial,_type_A8; Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis; Porokeratosis_3,_disseminated_superficial_actinic_type; Postaxial_hand_polydactyly; Primary_ciliary_dyskinesia; Primary_ciliary_dyskinesia_27; Primary_dilated_cardiomyopathy; Primary_familial_hypertrophic_cardiomyopathy; Primary_familial_polycythemia_due_to_EPO_receptor_mutation; Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection; Primary_open_angle_glaucoma; Progressive_familial_intrahepatic_cholestasis_type_1; Proportionate_short_stature; Pseudo-Hurler_polydystrophy; Ptosis; Pulmonary_arterial_hypertension; Pulmonary_arterial_hypertension_related_to_hereditary_hemorrhagic_telangiectasia; Pulmonary_hypertension,_primary,_1; RASopathy; RDH5-related_condition; Rare_genetic_deafness; Rare_genetic_intellectual_disability; Reduced_phenylalanine_hydroxylase_level; Renal_dysplasia_and_retinal_aplasia; Retinal_dystrophy; Retinitis_pigmentosa; Retinitis_punctata_albescens; Rhabdomyolysis; Right_ventricular_hypertrophy; Rod-cone_dystrophy; SCN8A-related_disorder; SCOTT_SYNDROME; SDR9C7-related_condition; SHORT-RIB_THORACIC_DYSPLASIA_19_WITHOUT_POLYDACTYLY; SMARCC2-related_BAFopathy; SUOX-related_condition; SYT1-associated_neurodevelopmental_disorder; Scapuloperoneal_spinal_muscular_atrophy; Scoliosis; See_cases; Seizure; Seizures,_benign_familial_infantile,_5; Self-injurious_behavior; Senior-Loken_syndrome_6; Severe_hydrocephalus; Short-rib_thoracic_dysplasia_19_with_or_without_polydactyly; Short_ribs; Short_stature; Silver-Russell_syndrome_1; Silver-Russell_syndrome_5; Skeletal_dysplasia; Skeletal_dysplasia_and_progressive_central_nervous_system_degeneration,_lethal; Smith-Magenis_Syndrome-like; Sodium_serum_level_quantitative_trait_locus_1; Spastic_ataxia; Spastic_paraparesis; Spastic_paraplegia; Specific_learning_disability; Spermatogenic_failure_9; Split_hand-foot_malformation_6; Spondyloepimetaphyseal_dysplasia,_Maroteaux_type; Spondyloepimetaphyseal_dysplasia,_Strudwick_type; Spondyloepiphyseal_dysplasia,_Stanescu_type; Spondyloepiphyseal_dysplasia_congenita; Spondylometaphyseal_dysplasia; Spondylometaphyseal_dysplasia,_Kozlowski_type; Spondylometaphyseal_dysplasia_-_Sutcliffe_type; Spondyloperipheral_dysplasia; Squamous_cell_lung_carcinoma; Stargardt_disease; Stickler_syndrome,_type_I,_nonsyndromic_ocular; Stickler_syndrome_type_1; Strabismus; Sudden_unexplained_death; Sulfite_oxidase_deficiency; Sulfocysteinuria; Syndromic_intellectual_disability; TBK1-related_condition; TBX3-related_condition; TBX5-related_condition; TCTN2-Related_Disorders; TRPV4-Associated_Disorders; TRPV4-related_bone_disorder; TRPV4-related_condition; TRPV4-related_disorders; TUBA1A-associated_tubulinopathy; TUBA1A-related_condition; Telangiectasia,_hereditary_hemorrhagic,_type_1; Telangiectasia,_hereditary_hemorrhagic,_type_2; Thrombocythemia_1; Thrombocytopenia; Transient_infantile_hypertriglyceridemia_and_hepatosteatosis; Transposition_of_the_great_arteries,_dextro-looped; Tricuspid_regurgitation; Tubulinopathy; Tubulinopathy-associated_dysgyria; Type_1_diabetes_mellitus_20; Type_2_collagenopathy; Type_2_diabetes_mellitus; Type_II_Collagenopathies; Typical_Joubert_syndrome_MRI_findings; Tyrosinemia_type_III; Ulnar-mammary_syndrome; Unsteady_gait; Vein_of_Galen_aneurysmal_malformation; Ventricular_septal_defect; Ventricular_tachycardia; Vesicoureteral_reflux; Visceral_neuropathy,_familial,_1,_autosomal_recessive; Vitamin_D-dependent_rickets,_type_1; Vitamin_D-dependent_rickets,_type_1A; Vitamin_D-dependent_rickets_type_II_with_alopecia; Vitreoretinopathy_with_phalangeal_epiphyseal_dysplasia; Walker-Warburg_congenital_muscular_dystrophy; Warsaw_breakage_syndrome; West_syndrome; Wide_nasal_bridge; Wrinkly_skin_syndrome; Young-onset_Parkinson_disease; developmental_delay_with_seizures; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr12:30802976-30802996 HPRC:pbsv.DEL.2460; chr12:30830721-30830745 HPRC:pbsv.DEL.2463; 12:30854798-30855788 DDD:38249; chr12:30869853-30870164 gnomAD-SV_v3_DEL_chr12_4251b664; 12:30869916-30870201 IMH; chr12:30869959-30870172 HPRC:pbsv.DEL.2465; chr12:30871879-30871962 dbVar; chr12:30886968-30887446 dbVar; chr12:30945116-30958397 dbVar; chr12:30957761-30957837 HPRC:pbsv.DEL.2468; chr12:30959884-30962316 dbVar; 12:30959900-30962285 DDD:38250; chr12:30967178-30967795 dbVar; 12:30999497-31000043 DDD:38254; chr12:30999498-31000043 dbVar; chr12:30999499-31000105 dbVar; 12:30999500-31000105 esv3629032; chr12:31006967-31007130 dbVar; chr12:31012712-31015720 dbVar; chr12:31038557-31040199 dbVar; chr12:31042270-31042331 dbVar... po_B_loss_someG_coord : chr12:30796639-30797335 dbVar; chr12:30812833-30812855 HPRC:pbsv.DEL.2462; chr12:30854797-30855787 dbVar; chr12:30854808-30855772 dbVar; 12:30869889-30869967 IMH; chr12:30869946-30869970 HPRC:pbsv.DEL.2464; 12:30869963-30870172 CMRI:2_pbsv.DEL.629_duplicate4; chr12:30877424-30880137 dbVar; chr12:30894335-30898406 dbVar; 12:30957717-30957789 CMRI:2_pbsv.DEL.630_duplicate3; chr12:30959193-30962804 dbVar; 12:30959885-30962316 1000g; chr12:30959900-30962285 dbVar; chr12:30967678-30967716 HPRC:pbsv.DEL.2469; 12:30999497-31000043 esv2678496; chr12:30999498-31000043 gnomAD-SV_v3_DEL_chr12_2863dd5c; 12:30999500-31000105 1000g; chr12:30999988-31000052 dbVar; chr12:31008708-31013547 dbVar; chr12:31031606-31031632 HPRC:pbsv.DEL.2473; 12:31038572-31040212 DDD:38255... |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 12:30793734-30794029 Repeat_type_left : AluY Gap_left : . GC_content_left : 0.530 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 12:131761758-131761873 Repeat_type_right : MIR1_Amn Gap_right : . GC_content_right : 0.475 |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
COL2A1Gene_name : COL2A1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : 3 TS : 0 DDD_HI_percent : 2.04 ACMG : . ExAC_cnvZ : -0.0881279906236847 ExAC_delZ : 1.29911408889276 ExAC_dupZ : -0.658944375337057 ExAC_synZ : -1.29910404940144 ExAC_misZ : 2.97438369244767 GenCC_disease : Czech dysplasia, metatarsal type; Kniest dysplasia; Legg-Calve-Perthes disease; Stickler syndrome type 1; Stickler syndrome, type I, nonsyndromic ocular; achondrogenesis type II; autosomal dominant rhegmatogenous retinal detachment; avascular necrosis of femoral head, primary, 1; dysspondyloenchondromatosis; familial avascular necrosis of femoral head; hypochondrogenesis; mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis; multiple epiphyseal dysplasia, Beighton type; otospondylomegaepiphyseal dysplasia; otospondylomegaepiphyseal dysplasia, autosomal recessive; platyspondylic dysplasia, Torrance type; spondyloepimetaphyseal dysplasia, Strudwick type; spondyloepiphyseal dysplasia congenita; spondyloepiphyseal dysplasia, Stanescu type; spondylometaphyseal dysplasia; spondylometaphyseal dysplasia, Schmidt type; spondyloperipheral dysplasia; vitreoretinopathy with phalangeal epiphyseal dysplasia GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive GenCC_pmid : 10406661; 10406661[PMID]_15895462[PMID]; 10729292; 10745044; 10797431; 10797431[PMID]; 11708863; 11771668; 11812423; 12205109; 12544472; 12917109; 12968670; 132450; 1374906; 1429602; 14729840; 15054848; 150600; 15076581; 15316962; 15316962[PMID]_23545312[PMID]; 15643621[PMID]; 15671297; 15671297[PMID]; 15895462; 15930420; 15930420[PMID]; 16088915; 16189708; 16752401; 17347327; 17394019; 17394019[PMID]_18512791[PMID]; 17509551; 17721977; 17726487; 17726487[PMID]; 18276201; 18553548; 1975693; 1975693[PMID]; 19764028; 20179744; 20204389; 20513134; 21442341; 21472893; 21671384; 21922596; 21924244; 22028304; 22496037; 22570642[PMID]_26250472[PMID]; 2300123; 2339128; 23448908; 23653587[PMID]; 24949742; 25050885; 25060605; 2543071; 25604898; 2572591; 25735649; 25967556; 26030151; 26030151[PMID]; 26183434[PMID]; 26358419; 26443184; 26626311; 27059630; 27390512; 28018693; 28095098; 28983407; 29453956; 29750297; 30541462; 31755234; 3195588; 35907616; 48380664; 7550321; 7550321[PMID]; 7741714; 7757081; 7757086; 7829510; 7849719; 7874117; 7981752; 8024616; 8129781; 8244341; 8325895; 8423604; 8486375; 8723097; 8723098; 8893763; 9314159; 9468540; 9800905; 9800905[PMID]; 9915573; NULL NCBI_gene_ID : 1280 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_017018828 Tx_version : 1 Tx_start : 47972966 Tx_end : 48006212 Exon_count : 56 Overlapped_tx_length : 33246 Overlapped_CDS_length : 4608 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47972966 Intersect_end : 48006212 |
120140; OMIM_ID : 120140; OMIM_phenotype : ?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) AD; ?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248 (3) AD; Achondrogenesis, type II or hypochondrogenesis, 200610 (3) AD; Avascular necrosis of the femoral head, 608805 (3) AD; Czech dysplasia, 609162 (3) AD; Kniest dysplasia, 156550 (3) AD; Legg-Calve-Perthes disease, 150600 (3) AD; Osteoarthritis with mild chondrodysplasia, 604864 (3) AD; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) AD; SED congenita, 183900 (3) AD; SMED Strudwick type, 184250 (3) AD; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) AD; Spondyloperipheral dysplasia, 271700 (3) AD; Stickler syndrome, type I, 108300 (3) AD; Stickler syndrome, type I, nonsyndromic ocular, 609508 (3) AD; OMIM_inheritance : AD OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.9820Exomiser_gene_pheno_score : 0.9820 Human_pheno_evidence : Brachydactyly; Platyspondylic skeletal dysplasia, Torrance type Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal chondrocyte physiology; brachydactyly Fish_pheno_evidence : Craniosynostosis; vertebra fused with vertebra, abnormal |
APhenoGenius_specificity : A PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 1.85 |
.RE_gene : . |
12:47972967-48006212; 12:47972968-48006212; 1[...]P_loss_coord : 12:47972967-48006212; 12:47972968-48006212; 12:47974267-47977735; 12:47975595-47976060; 12:47975596-47976059; 12:47983546-47986867; 12:47983547-47986866; 12:47984940-47985027; 12:47984941-47985026 P_loss_source : CLN:1457646; CLN:2419797; CLN:511999; HI3:COL2A1; dbVar:nssv15131572; dbVar:nssv17971508; dbVar:nssv17975071; dbVar:nssv18792566; morbid:COL2A1 P_loss_phen : ?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) AD; ?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248 (3) AD; Achondrogenesis, type II or hypochondrogenesis, 200610 (3) AD; Avascular necrosis of the femoral head, 608805 (3) AD; Czech dysplasia, 609162 (3) AD; Kniest dysplasia, 156550 (3) AD; Legg-Calve-Perthes disease, 150600 (3) AD; Osteoarthritis with mild chondrodysplasia, 604864 (3) AD; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) AD; SED congenita, 183900 (3) AD; SMED Strudwick type, 184250 (3) AD; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) AD; Spondyloperipheral dysplasia, 271700 (3) AD; Stickler syndrome, type I, 108300 (3) AD; Stickler syndrome, type I, nonsyndromic ocular, 609508 (3) AD; Inborn_genetic_diseases; Stickler_syndrome_type_1 P_loss_hpo : . |
458P_snvindel_nb : 458 P_snvindel_phen : Abnormality_of_the_skeletal_system; Absent_vertebral_body_mineralization; Acetabular_dysplasia; Achondrogenesis_type_II; Autosomal_dominant_rhegmatogenous_retinal_detachment; Avascular_necrosis_of_femoral_head,_primary,_1; COL2A1-related_condition; COL2A1-related_disorders; COL2A1-related_skeletal_dysplasia; Connective_tissue_disorder; Czech_dysplasia,_metatarsal_type; Heart,_malformation_of; Inborn_genetic_diseases; Kniest_dysplasia; Legg-Calve-Perthes_disease; Micrognathia; Multiple_epiphyseal_dysplasia,_Beighton_type; Myopia; Namaqualand_hip_dysplasia; Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant; Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive; Platyspondylic_dysplasia,_Torrance_type; Retinal_dystrophy; See_cases; Short_ribs; Skeletal_dysplasia; Spondyloepimetaphyseal_dysplasia,_Strudwick_type; Spondyloepiphyseal_dysplasia,_Stanescu_type; Spondyloepiphyseal_dysplasia_congenita; Spondylometaphyseal_dysplasia; Spondylometaphyseal_dysplasia_-_Sutcliffe_type; Spondyloperipheral_dysplasia; Stargardt_disease; Stickler_syndrome,_type_I,_nonsyndromic_ocular; Stickler_syndrome_type_1; Type_2_collagenopathy; Type_II_Collagenopathies; Vitreoretinopathy_with_phalangeal_epiphyseal_dysplasia; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TBX5Gene_name : TBX5; LOEUF_bin : 0 GnomAD_pLI : 9.9954e-01 ExAC_pLI : 9.9188e-01 HI : 3 TS : 0 DDD_HI_percent : 1.67 ACMG : . ExAC_cnvZ : 0.978219184986827 ExAC_delZ : 0.854164823695449 ExAC_dupZ : 0.731254388334815 ExAC_synZ : -0.479555179405314 ExAC_misZ : 1.80496983562237 GenCC_disease : Holt-Oram syndrome; heart conduction disease GenCC_moi : AD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 16183809; 16917909; 19648116; 20301290[PMID]; 20519243; 25963046 NCBI_gene_ID : 6910 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : 5'UTR-3'UTR Tx : XM_017019912 Tx_version : 2 Tx_start : 114353910 Tx_end : 114408012 Exon_count : 9 Overlapped_tx_length : 54102 Overlapped_CDS_length : 1605 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114353910 Intersect_end : 114408012 |
0.8413Exomiser_gene_pheno_score : 0.8413 Human_pheno_evidence : Brachydactyly; Holt-Oram syndrome; Short digit Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal carpal bone morphology; abnormal phalanx morphology Fish_pheno_evidence : Craniosynostosis; head shape, abnormal |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.13 |
.RE_gene : . |
12:114355513-114403918; 12:114355523-11435611[...]P_loss_coord : 12:114355513-114403918; 12:114355523-114356116; 12:114355533-114399652; 12:114385457-114385587; 12:114390253-114394865; 12:114394722-114394913; 12:114401807-114401940; 12:114401817-114401930 P_loss_source : dbVar:nssv15130888; dbVar:nssv15134545; dbVar:nssv15770480; dbVar:nssv15770821; dbVar:nssv16213650; dbVar:nssv17171937; dbVar:nssv17971379; dbVar:nssv18787174 P_loss_phen : . P_loss_hpo : . |
90P_snvindel_nb : 90 P_snvindel_phen : Aortic_valve_disease_2; Atrial_septal_defect,_ostium_secundum_type; Cardiovascular_phenotype; Heart,_malformation_of; Holt-Oram_syndrome; Inborn_genetic_diseases; Left_ventricular_noncompaction_cardiomyopathy; Mitral_regurgitation; TBX5-related_condition; Ventricular_septal_defect |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ARID2Gene_name : ARID2; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : 3 TS : 0 DDD_HI_percent : 11.02 ACMG : . ExAC_cnvZ : 1.48526735037295 ExAC_delZ : 1.0355415259147 ExAC_dupZ : 1.26051600508561 ExAC_synZ : -1.81429651156784 ExAC_misZ : 2.08993988612612 GenCC_disease : Coffin-Siris syndrome; Coffin-Siris syndrome 6 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 25299188; 26238514; 28124119; 28124119[PMID]; 29698805; 30838730 NCBI_gene_ID : 196528 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_152641 Tx_version : 4 Tx_start : 45729705 Tx_end : 45908037 Exon_count : 21 Overlapped_tx_length : 178332 Overlapped_CDS_length : 5508 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45729705 Intersect_end : 45908037 |
0.8310Exomiser_gene_pheno_score : 0.8310 Human_pheno_evidence : Brachydactyly; Coffin-Siris syndrome 6; Craniosynostosis; Wormian bones Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.23 |
.RE_gene : . |
12:45729706-45908037; 12:45729707-45908037; 1[...]P_loss_coord : 12:45729706-45908037; 12:45729707-45908037; 12:45731284-45836582; 12:45783438-45819261; 12:45813318-45848861; 12:45836590-45839496 P_loss_source : HI3:ARID2; dbVar:nssv16297044; dbVar:nssv17955474; dbVar:nssv17969530; dbVar:nssv18326336; morbid:ARID2 P_loss_phen : Coffin-Siris syndrome 6, 617808 (3) AD P_loss_hpo : . |
48P_snvindel_nb : 48 P_snvindel_phen : ARID2-related_BAFopathy; Coffin-Siris_syndrome_6; Desmoplastic/nodular_medulloblastoma; Inborn_genetic_diseases; Neurodevelopmental_disorder |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TBX3Gene_name : TBX3; LOEUF_bin : 1 GnomAD_pLI : 9.8907e-01 ExAC_pLI : 9.4893e-01 HI : 3 TS : 0 DDD_HI_percent : 3.05 ACMG : . ExAC_cnvZ : 1.02303138199542 ExAC_delZ : 0.563545573961496 ExAC_dupZ : 0.891147243122436 ExAC_synZ : 1.91565956480439 ExAC_misZ : 3.18673780484533 GenCC_disease : heart conduction disease; ulnar-mammary syndrome GenCC_moi : AD GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 10330342; 12116211; 12668170; 16896345; 19938096; 19938096[PMID]_10330342[PMID]_12668170[PMID]; 25328580; 28145909; 9207801 NCBI_gene_ID : 6926 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : 5'UTR-3'UTR Tx : NM_016569 Tx_version : 4 Tx_start : 114670254 Tx_end : 114684175 Exon_count : 8 Overlapped_tx_length : 13921 Overlapped_CDS_length : 2232 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114670254 Intersect_end : 114684175 |
0.8599Exomiser_gene_pheno_score : 0.8599 Human_pheno_evidence : Brachydactyly; Short 5th toe; Ulnar-mammary syndrome Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal digit morphology; absent tarsus bones Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.09 |
.RE_gene : . |
12:114670255-114684175; 12:114670256-114684175P_loss_coord : 12:114670255-114684175; 12:114670256-114684175 P_loss_source : HI3:TBX3; morbid:TBX3 P_loss_phen : Ulnar-mammary syndrome, 181450 (3) AD P_loss_hpo : . |
8P_snvindel_nb : 8 P_snvindel_phen : Inborn_genetic_diseases; TBX3-related_condition; Ulnar-mammary_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PTPN11Gene_name : PTPN11; LOEUF_bin : 0 GnomAD_pLI : 9.9998e-01 ExAC_pLI : 9.9988e-01 HI : 3 TS : 0 DDD_HI_percent : 1.58 ACMG : . ExAC_cnvZ : 1.19001116371122 ExAC_delZ : 1.0748392429843 ExAC_dupZ : 0.893780996520254 ExAC_synZ : 0.978517385283562 ExAC_misZ : 3.42454966552757 GenCC_disease : Costello syndrome; LEOPARD syndrome 1; Noonan syndrome; Noonan syndrome 1; Noonan syndrome and Noonan-related syndrome; Noonan syndrome with multiple lentigines; cardiofaciocutaneous syndrome; metachondromatosis GenCC_moi : AD GenCC_classification : Definitive; Disputed Evidence; Strong; Supportive GenCC_pmid : 11704759; 11992261; 12058348; 12161469; 12161596; 12325025; 12529711; 12634870; 14974085; 15121796; 15240615; 15384080; 15520399; 15521065; 16263833; 16358218; 16377799; 16733669; 17497712; 17603483; 17697839; 17875892; 17927788; 18348260; 18678287; 19054014; 19449407; 19659470; 19760651; 19760651[PMID]; 19768645; 19864201; 20301557[PMID]; 20577567; 21269411; 21365175; 21533187; 21533187[PMID]; 21677813; 21747628; 21910226; 22822385; 23312968; 23799168; 24739123; 24790373; 24820750; 24935154; 25884655; 25917897; 25974318; 26377839; 27484170; 30681346; 33354767 NCBI_gene_ID : 5781 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001330437 Tx_version : 2 Tx_start : 112418946 Tx_end : 112509918 Exon_count : 16 Overlapped_tx_length : 90972 Overlapped_CDS_length : 1794 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112418946 Intersect_end : 112509918 |
0.7441Exomiser_gene_pheno_score : 0.7441 Human_pheno_evidence : Brachydactyly; Noonan syndrome 1 Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal cranium size; pectus excavatum Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.46 |
.RE_gene : . |
12:112418947-112509918; 12:112418948-11250991[...]P_loss_coord : 12:112418947-112509918; 12:112418948-112509918; 12:112471497-112477633; 12:112472925-112473060; 12:112477646-112478021; 12:112477652-112478015 P_loss_source : HI3:PTPN11; dbVar:nssv15161651; dbVar:nssv17171364; dbVar:nssv17974237; dbVar:nssv18789491; morbid:PTPN11 P_loss_phen : LEOPARD syndrome 1, 151100 (3) AD; Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3) AD; Noonan syndrome 1, 163950 (3) AD P_loss_hpo : . |
121P_snvindel_nb : 121 P_snvindel_phen : Abnormal_bleeding; Abnormal_cardiovascular_system_morphology; Abnormal_facial_shape; Abnormal_pinna_morphology; Acute_myeloid_leukemia; Astrocytoma; Atrial_septal_defect,_ostium_secundum_type; B-cell_chronic_lymphocytic_leukemia; B_lymphoblastic_leukemia_lymphoma,_no_ICD-O_subtype; Brachycephaly; CBL-related_disorder; Cafe-au-lait_spot; Cardiovascular_phenotype; Depressed_nasal_ridge; Dysplastic_pulmonary_valve; Early_T_cell_progenitor_acute_lymphoblastic_leukemia; Epicanthus; Failure_to_thrive; Global_developmental_delay; Hereditary_cancer-predisposing_syndrome; Hypertrophic_cardiomyopathy; Inborn_genetic_diseases; Intellectual_disability,_mild; Juvenile_myelomonocytic_leukemia; LEOPARD_syndrome_1; Lymphoma; Metachondromatosis; Microcephaly; Multiple_myeloma; Neoplasm_of_brain; Neoplasm_of_the_large_intestine; Neuroblastoma; Neurodevelopmental_abnormality; Neurodevelopmental_disorder; Non-immune_hydrops_fetalis; Noonan_syndrome; Noonan_syndrome_1; Noonan_syndrome_3; Noonan_syndrome_and_Noonan-related_syndrome; Noonan_syndrome_with_multiple_lentigines; PTPN11-related_condition; PTPN11-related_disorder; PTPN11_Related_Disorders; Patent_ductus_arteriosus; Pectus_excavatum; Proportionate_short_stature; Ptosis; RASopathy; Right_ventricular_hypertrophy; Scoliosis; See_cases; Short_stature; Specific_learning_disability; Squamous_cell_lung_carcinoma; Strabismus; Thrombocytopenia; Tricuspid_regurgitation; Wide_nasal_bridge; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DUSP6Gene_name : DUSP6; LOEUF_bin : 0 GnomAD_pLI : 9.7603e-01 ExAC_pLI : 9.1121e-01 HI : . TS : . DDD_HI_percent : 2.13 ACMG : . ExAC_cnvZ : 0.519913912945111 ExAC_delZ : 0.397608082762977 ExAC_dupZ : 0.359666875200538 ExAC_synZ : 1.37742610500578 ExAC_misZ : 2.89615678708392 GenCC_disease : Kallmann syndrome; hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 19 with or without anosmia GenCC_moi : AD GenCC_classification : Limited; Supportive GenCC_pmid : 18753132; 23643382; 23643382[PMID]; 32520725; 34539727 NCBI_gene_ID : 1848 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_001946 Tx_version : 4 Tx_start : 89347234 Tx_end : 89352501 Exon_count : 3 Overlapped_tx_length : 5267 Overlapped_CDS_length : 1146 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89347234 Intersect_end : 89352501 |
1.0000Exomiser_gene_pheno_score : 1.0000 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal long bone epiphyseal ossification zone morphology; premature coronal suture closure Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:89347235-89352501P_loss_coord : 12:89347235-89352501 P_loss_source : morbid:DUSP6 P_loss_phen : Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3) AD P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Hypogonadotropic_hypogonadism_19_with_or_without_anosmia |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TRPV4Gene_name : TRPV4; LOEUF_bin : 5 GnomAD_pLI : 2.2370e-16 ExAC_pLI : 7.3195e-06 HI : . TS : . DDD_HI_percent : 17.43 ACMG : . ExAC_cnvZ : 0.647400512638203 ExAC_delZ : 0.233098692766923 ExAC_dupZ : 0.714185610013519 ExAC_synZ : -0.749876334675314 ExAC_misZ : 3.23644589889579 GenCC_disease : Charcot-Marie-Tooth disease axonal type 2C; TRPV4-related bone disorder; autosomal dominant brachyolmia; brachyolmia; familial avascular necrosis of femoral head; familial digital arthropathy-brachydactyly; metatropic dysplasia; neuromuscular disease; neuronopathy, distal hereditary motor, autosomal dominant 8; parastremmatic dwarfism; scapuloperoneal spinal muscular atrophy, autosomal dominant; spondyloepimetaphyseal dysplasia, Maroteaux type; spondylometaphyseal dysplasia, Kozlowski type GenCC_moi : AD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 12682323; 15668982; 1842522; 18587396; 18587396[PMID]_24830047[PMID]; 19232556; 20037586; 20037587; 20037587[PMID]; 20037588; 20301462[PMID]; 20425821; 20503319[PMID]_24830047[PMID]; 20577006; 21288981; 21454511; 21573172; 21964574; 21964574[PMID]_24830047[PMID]; 21964829; 22791502[PMID]; 24644033; 24677493; 24830047[PMID]; 24830047[PMID]_22526352[PMID]; 26170305; 27330106[PMID]; 606071 NCBI_gene_ID : 59341 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_011538630 Tx_version : 3 Tx_start : 109783086 Tx_end : 109819629 Exon_count : 16 Overlapped_tx_length : 36543 Overlapped_CDS_length : 2769 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109783086 Intersect_end : 109819629 |
605427; OMIM_ID : 605427; OMIM_phenotype : ?Avascular necrosis of femoral head, primary, 2, 617383 (3) AD; Brachyolmia type 3, 113500 (3) AD; Digital arthropathy-brachydactyly, familial, 606835 (3) AD; Hereditary motor and sensory neuropathy, type IIc, 606071 (3) AD; Metatropic dysplasia, 156530 (3) AD; Neuronopathy, distal hereditary motor, AD 8, 600175 (3) AD; Parastremmatic dwarfism, 168400 (3) AD; SED, Maroteaux type, 184095 (3) AD; Scapuloperoneal spinal muscular atrophy, 181405 (3) AD; Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3) AD; [Sodium serum level QTL 1], 613508 (3); OMIM_inheritance : AD OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.7640Exomiser_gene_pheno_score : 0.7640 Human_pheno_evidence : Brachydactyly; Metatropic dysplasia Mouse_pheno_evidence : Craniosynostosis; ocular hypertension Fish_pheno_evidence : . |
APhenoGenius_specificity : A PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 2.38 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
27P_snvindel_nb : 27 P_snvindel_phen : Avascular_necrosis_of_femoral_head,_primary,_2; Brachyrachia_(short_spine_dysplasia); Charcot-Marie-Tooth_disease; Charcot-Marie-Tooth_disease_axonal_type_2C; Clubfoot; Distal_spinal_muscular_atrophy; EMG_abnormality; Familial_digital_arthropathy-brachydactyly; Hereditary_motor_neuron_disease; Inborn_genetic_diseases; Lower_limb_amyotrophy; Metatropic_dysplasia; Neuromuscular_disease; Neuronopathy,_distal_hereditary_motor,_autosomal_dominant; Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8; Parastremmatic_dwarfism; Scapuloperoneal_spinal_muscular_atrophy; Skeletal_dysplasia; Skeletal_dysplasia_and_progressive_central_nervous_system_degeneration,_lethal; Sodium_serum_level_quantitative_trait_locus_1; Spondyloepimetaphyseal_dysplasia,_Maroteaux_type; Spondylometaphyseal_dysplasia,_Kozlowski_type; TRPV4-Associated_Disorders; TRPV4-related_bone_disorder; TRPV4-related_condition; TRPV4-related_disorders |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KMT2DGene_name : KMT2D; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : 3 TS : 0 DDD_HI_percent : 17.49 ACMG : . ExAC_cnvZ : 1.3380158829858 ExAC_delZ : 0.934218217205293 ExAC_dupZ : 1.42258462539321 ExAC_synZ : -2.61901511649011 ExAC_misZ : 3.28623082853147 GenCC_disease : Kabuki syndrome; Kabuki syndrome 1; branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome; choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome GenCC_moi : AD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 20711175; 21607748; 21671394; 21882399[PMID]; 22126750; 24633898; 24739679; 25142838; 25944076; 25972376; 27302555; 27530205; 27573763; 27991736; 28295206; 28404210; 29283410; 29482518; 29914387; 30569626; 31935506; 31949313; 32083401; 34136434; 34369642; 35060672; 575 NCBI_gene_ID : 8085 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_003482 Tx_version : 4 Tx_start : 49018977 Tx_end : 49060794 Exon_count : 55 Overlapped_tx_length : 41817 Overlapped_CDS_length : 16614 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49018977 Intersect_end : 49060794 |
0.6007Exomiser_gene_pheno_score : 0.6007 Human_pheno_evidence : Brachydactyly; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome; Clinodactyly; Craniosynostosis; Dolichocephaly Mouse_pheno_evidence : Craniosynostosis; short maxilla Fish_pheno_evidence : . |
BPhenoGenius_specificity : B PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.86 |
.RE_gene : . |
12:49018978-49060794; 12:49018979-49060794; 1[...]P_loss_coord : 12:49018978-49060794; 12:49018979-49060794; 12:49025252-49030913; 12:49032881-49032939; 12:49039725-49043428; 12:49040812-49045663 P_loss_source : HI3:KMT2D; dbVar:nssv16215079; dbVar:nssv16297108; dbVar:nssv16297140; dbVar:nssv17976251; morbid:KMT2D P_loss_phen : Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome, 620186 (3) AD; Kabuki syndrome 1, 147920 (3) AD P_loss_hpo : . |
536P_snvindel_nb : 536 P_snvindel_phen : Abnormality_of_the_nervous_system; CHARGE_association; Cavernous_sinus_meningioma; Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome; Complement_component_C1s_deficiency; Dandy-Walker_syndrome; Inborn_genetic_diseases; Intellectual_disability; KMT2D-related_condition; KMT2D-related_disorders; Kabuki_syndrome; Kabuki_syndrome_1; Lung_cancer; Lymphoma; Microcephaly; Multiple_myeloma; Neurodevelopmental_delay; Neurodevelopmental_disorder; See_cases; Seizure; Smith-Magenis_Syndrome-like; Vein_of_Galen_aneurysmal_malformation |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PRICKLE1Gene_name : PRICKLE1; LOEUF_bin : 0 GnomAD_pLI : 9.9999e-01 ExAC_pLI : 9.9197e-01 HI : . TS : . DDD_HI_percent : 46.06 ACMG : . ExAC_cnvZ : 0.400329951590259 ExAC_delZ : 0.555817667946772 ExAC_dupZ : 0.14932937043713 ExAC_synZ : 0.616945806144053 ExAC_misZ : 1.95905082137864 GenCC_disease : Unverricht-Lundborg syndrome; epilepsy; epilepsy, progressive myoclonic, 1B; progressive myoclonus epilepsy GenCC_moi : AD; AR GenCC_classification : Disputed Evidence; Limited; Strong; Supportive GenCC_pmid : 18976727; 18976727[PMID] NCBI_gene_ID : 144165 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_153026 Tx_version : 3 Tx_start : 42456756 Tx_end : 42589746 Exon_count : 8 Overlapped_tx_length : 132990 Overlapped_CDS_length : 2496 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42456756 Intersect_end : 42589746 |
0.9628Exomiser_gene_pheno_score : 0.9628 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; brachydactyly; prominent forehead Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:42456757-42589746; 12:42476401-42505654; 1[...]P_loss_coord : 12:42456757-42589746; 12:42476401-42505654; 12:42477878-42504431 P_loss_source : dbVar:nssv15124484; dbVar:nssv16215294; morbid:PRICKLE1 P_loss_phen : Epilepsy, progressive myoclonic 1B, 612437 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Epilepsy,_progressive_myoclonic,_1B |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT5Gene_name : KRT5; LOEUF_bin : 2 GnomAD_pLI : 6.4172e-01 ExAC_pLI : 4.6933e-01 HI : . TS : . DDD_HI_percent : 17.99 ACMG : . ExAC_cnvZ : 1.46334854471221 ExAC_delZ : 1.12112163835527 ExAC_dupZ : 1.38900415788718 ExAC_synZ : -1.21730061730137 ExAC_misZ : 0.477424630662686 GenCC_disease : Dowling-Degos disease; Dowling-Degos disease 1; epidermolysis bullosa simplex 1A, generalized severe; epidermolysis bullosa simplex 1B, generalized intermediate; epidermolysis bullosa simplex 1C, localized; epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; epidermolysis bullosa simplex 2B, generalized intermediate; epidermolysis bullosa simplex 2E, with migratory circinate erythema; epidermolysis bullosa simplex 2F, with mottled pigmentation; epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive GenCC_moi : AD; AR GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 10234505; 10383750; 11407989; 11408584; 11973334; 12655565; 12925204[PMID]; 16465624; 16465624[PMID]; 16917491; 19267394; 19616543; 20060687; 20301543[PMID]; 21569119; 25284854; 26432462; 26743602; 28576738; 29334134; 29932457; 31302245; 31312705; 32884918; 52517502; 52520040; 7534039; 8799157 NCBI_gene_ID : 3852 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_000424 Tx_version : 4 Tx_start : 52514574 Tx_end : 52520394 Exon_count : 9 Overlapped_tx_length : 5820 Overlapped_CDS_length : 1773 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52514574 Intersect_end : 52520394 |
148040; OMIM_ID : 148040; OMIM_phenotype : Dowling-Degos disease 1, 179850 (3) AD; Epidermolysis bullosa simplex 2A, generalized severe, 619555 (3) AD; Epidermolysis bullosa simplex 2B, generalized intermediate, 619588 (3) AD; Epidermolysis bullosa simplex 2C, localized, 619594 (3) AD; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR, 619599 (3) AR; Epidermolysis bullosa simplex 2E, with migratory circinate erythema, 609352 (3) AD; Epidermolysis bullosa simplex 2F, with mottled pigmentation, 131960 (3) AD; OMIM_inheritance : AD; AR OMIM_morbid : yes OMIM_morbid_candidate : . |
0.8574Exomiser_gene_pheno_score : 0.8574 Human_pheno_evidence : Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Brachydactyly; Craniosynostosis; Nail dystrophy Mouse_pheno_evidence : Brachydactyly; abnormal autopod morphology Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Craniosynostosis PhenoGenius_score : 0.2 |
.RE_gene : . |
12:52514575-52520394P_loss_coord : 12:52514575-52520394 P_loss_source : morbid:KRT5 P_loss_phen : Dowling-Degos disease 1, 179850 (3) AD; Epidermolysis bullosa simplex 2A, generalized severe, 619555 (3) AD; Epidermolysis bullosa simplex 2B, generalized intermediate, 619588 (3) AD; Epidermolysis bullosa simplex 2C, localized, 619594 (3) AD; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR, 619599 (3) AR; Epidermolysis bullosa simplex 2E, with migratory circinate erythema, 609352 (3) AD; Epidermolysis bullosa simplex 2F, with mottled pigmentation, 131960 (3) AD P_loss_hpo : . |
45P_snvindel_nb : 45 P_snvindel_phen : Dowling-Degos_disease_1; Epidermolysis_bullosa; Epidermolysis_bullosa_simplex; Epidermolysis_bullosa_simplex,_Koebner_type; Epidermolysis_bullosa_simplex_1A,_generalized_severe; Epidermolysis_bullosa_simplex_1C,_localized; Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive; Epidermolysis_bullosa_simplex_2A,_generalized_severe; Epidermolysis_bullosa_simplex_2B,_generalized_intermediate; Epidermolysis_bullosa_simplex_2C,_localized; Epidermolysis_bullosa_simplex_with_migratory_circinate_erythema; Epidermolysis_bullosa_simplex_with_mottled_pigmentation; KRT5-related_condition |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MED13LGene_name : MED13L; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : 3 TS : 0 DDD_HI_percent : 7.11 ACMG : . ExAC_cnvZ : 0.0709590937600541 ExAC_delZ : 0.81762680929429 ExAC_dupZ : -0.319239086206362 ExAC_synZ : 0.512393790098124 ExAC_misZ : 4.17213283930451 GenCC_disease : cardiac anomalies - developmental delay - facial dysmorphism syndrome; intellectual disability, autosomal dominant 40; syndromic intellectual disability GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 14638541; 23403903; 23403903[PMID]_25712080[PMID]; 24550107; 24781760; 25137640; 25167861; 25356899; 25712080; 25758992; 28371282; 28645799; 29159987; 29511999; 29740699; 29959045; 31337854 NCBI_gene_ID : 23389 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : 5'UTR-3'UTR Tx : NM_015335 Tx_version : 5 Tx_start : 115958575 Tx_end : 116277693 Exon_count : 31 Overlapped_tx_length : 319118 Overlapped_CDS_length : 6633 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 115958575 Intersect_end : 116277693 |
0.6543Exomiser_gene_pheno_score : 0.6543 Human_pheno_evidence : Brachydactyly; Clinodactyly; Craniosynostosis; Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; Plagiocephaly Mouse_pheno_evidence : Craniosynostosis; microphthalmia Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.13 |
.RE_gene : . |
12:115958576-116277693; 12:115958577-11627769[...]P_loss_coord : 12:115958576-116277693; 12:115958577-116277693; 12:115961247-116096772; 12:115980731-115982623; 12:115982184-116022795; 12:116005659-116019999; 12:116008504-116200640; 12:116014142-116019839; 12:116014143-116019838; 12:116018725-116050715; 12:116019419-116054358; 12:116024443-116165654; 12:116038359-116218486; 12:116043865-116131751; 12:116046436-116126238; 12:116060178-116097144; 12:116065323-116120287; 12:116085996-116143669; 12:116090710-116168006; 12:116093408-116167581; 12:116096650-116111532; 12:116096670-116111512; 12:116103618-116165654; 12:116184928-116248171; 12:116235336-116239190 P_loss_source : CLN:964675; HI3:MED13L; dbVar:nssv15120280; dbVar:nssv15120281; dbVar:nssv15124438; dbVar:nssv15138236; dbVar:nssv15138718; dbVar:nssv15150399; dbVar:nssv15153891; dbVar:nssv15605785; dbVar:nssv15605921; dbVar:nssv16208356; dbVar:nssv16208357; nssv16296980; dbVar:nssv16208669; dbVar:nssv16212577; dbVar:nssv16215080; dbVar:nssv16296981; dbVar:nssv16297133; dbVar:nssv16867402; dbVar:nssv17955581; dbVar:nssv17956942; dbVar:nssv17969560; dbVar:nssv18786731; dbVar:nssv18786732; morbid:MED13L P_loss_phen : Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome; Impaired intellectual development and distinctive facial features with or without cardiac defects, 616789 (3) AD P_loss_hpo : . |
137P_snvindel_nb : 137 P_snvindel_phen : Autism_spectrum_disorder; Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome; Delayed_speech_and_language_development; Global_developmental_delay; Inborn_genetic_diseases; Intellectual_disability; Kabuki-like_syndrome; MED13L-Related_Disorder; MED13L-related_neurodevelopmental_disorder; Motor_delay; Neurodevelopmental_disorder; See_cases; Strabismus; Transposition_of_the_great_arteries,_dextro-looped; Vesicoureteral_reflux |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GNPTABGene_name : GNPTAB; LOEUF_bin : 4 GnomAD_pLI : 7.6824e-19 ExAC_pLI : 4.2256e-06 HI : . TS : . DDD_HI_percent : 19.02 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.747110703965223 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.317300454806777 ExAC_misZ : 0.969968900993707 GenCC_disease : GNPTAB-mucolipidosis; mucolipidosis; mucolipidosis type II; mucolipidosis type III, alpha/beta GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 121350; 15633164; 16094673; 16116615; 16200072; 16465621; 18425436[PMID]; 19197337; 19261645; 19617216; 19634183; 24060719; 24891900; 25107912; 251330; 282744; 34341521 NCBI_gene_ID : 79158 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_024312 Tx_version : 5 Tx_start : 101745498 Tx_end : 101830959 Exon_count : 21 Overlapped_tx_length : 85461 Overlapped_CDS_length : 3771 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101745498 Intersect_end : 101830959 |
0.8684Exomiser_gene_pheno_score : 0.8684 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Mucolipidosis III alpha/beta; Soft tissue swelling of interphalangeal joints Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal epiphyseal plate morphology; decreased bone mineral density Fish_pheno_evidence : Craniosynostosis; endochondral bone decreased occurrence ossification, abnormal |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Craniosynostosis PhenoGenius_score : 0.3 |
.RE_gene : . |
12:101747145-101796782; 12:101747155-10176177[...]P_loss_coord : 12:101747145-101796782; 12:101747155-101761773; 12:101747155-101830685; 12:101756215-101830959; 12:101764193-101780631; 12:101764639-101791596; 12:101780143-101780631; 12:101780143-101830685 P_loss_source : dbVar:nssv16214597; dbVar:nssv17172113; dbVar:nssv17972728; dbVar:nssv18787644; dbVar:nssv18787645; dbVar:nssv18787646; dbVar:nssv18787647; morbid:GNPTAB P_loss_phen : Mucolipidosis II alpha; beta, 252500 (3) AR; Mucolipidosis III alpha; beta, 252600 (3) AR P_loss_hpo : . |
160P_snvindel_nb : 160 P_snvindel_phen : Abnormality_of_metabolism/homeostasis; GNPTAB-Related_Disorders; GNPTAB-related_disorder; Inborn_genetic_diseases; Juvenile_osteochondrosis_of_spine; Legg-Calve-Perthes_disease; Mucolipidosis; Mucolipidosis_type_II; Mucopolysaccharidosis,_MPS-III-A; Pseudo-Hurler_polydystrophy |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IFT81Gene_name : IFT81; LOEUF_bin : 4 GnomAD_pLI : 9.0878e-12 ExAC_pLI : 5.7603e-07 HI : . TS : . DDD_HI_percent : 18.77 ACMG : . ExAC_cnvZ : 1.13877608644467 ExAC_delZ : 0.501846983931831 ExAC_dupZ : 1.2152266989916 ExAC_synZ : -0.0221706201848208 ExAC_misZ : -0.230464280546208 GenCC_disease : ciliopathy; short-rib thoracic dysplasia 19 with or without polydactyly GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 26275418; 27666822 NCBI_gene_ID : 28981 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001143779 Tx_version : 2 Tx_start : 110124356 Tx_end : 110218793 Exon_count : 19 Overlapped_tx_length : 94437 Overlapped_CDS_length : 2031 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110124356 Intersect_end : 110218793 |
0.8020Exomiser_gene_pheno_score : 0.8020 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Dolichocephaly; Short-rib thoracic dysplasia 19 with or without polydactyly Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.47 |
.RE_gene : . |
12:110124357-110218793; 12:110143363-110143565P_loss_coord : 12:110124357-110218793; 12:110143363-110143565 P_loss_source : dbVar:nssv18790832; morbid:IFT81 P_loss_phen : Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3) AR P_loss_hpo : . |
22P_snvindel_nb : 22 P_snvindel_phen : Jeune_thoracic_dystrophy; SHORT-RIB_THORACIC_DYSPLASIA_19_WITHOUT_POLYDACTYLY; Short-rib_thoracic_dysplasia_19_with_or_without_polydactyly |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TCTN2Gene_name : TCTN2; LOEUF_bin : 5 GnomAD_pLI : 1.8379e-14 ExAC_pLI : 1.9717e-05 HI : 30 TS : 0 DDD_HI_percent : 87.7 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62218932487291 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 1.32794609884853 ExAC_misZ : -0.118316353788369 GenCC_disease : Joubert syndrome; Joubert syndrome 24; Meckel syndrome GenCC_moi : AR GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 21462283[PMID]; 21565611; 21565611[PMID] NCBI_gene_ID : 79867 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_024809 Tx_version : 5 Tx_start : 123671112 Tx_end : 123708399 Exon_count : 18 Overlapped_tx_length : 37287 Overlapped_CDS_length : 2094 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123671112 Intersect_end : 123708399 |
0.7815Exomiser_gene_pheno_score : 0.7815 Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Foot polydactyly; Joubert syndrome Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; microphthalmia; preaxial polydactyly Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.11 |
.RE_gene : . |
12:123671113-123704531; 12:123679291-12369970[...]P_loss_coord : 12:123671113-123704531; 12:123679291-123699703; 12:123686945-123708399; 12:123699685-123699830; 12:123704513-123707713 P_loss_source : dbVar:nssv16214268; dbVar:nssv17955829; dbVar:nssv18326636; dbVar:nssv18787718; morbid:TCTN2 P_loss_phen : ?Meckel syndrome 8, 613885 (3) AR; Joubert syndrome 24, 616654 (3) AR P_loss_hpo : . |
29P_snvindel_nb : 29 P_snvindel_phen : Familial_aplasia_of_the_vermis; Joubert_syndrome_24; Joubert_syndrome_and_related_disorders; Meckel-Gruber_syndrome; Meckel_syndrome,_type_6; Meckel_syndrome,_type_8; TCTN2-Related_Disorders |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PRIM1Gene_name : PRIM1; LOEUF_bin : 3 GnomAD_pLI : 9.9380e-04 ExAC_pLI : 2.6898e-02 HI : . TS : . DDD_HI_percent : 17.91 ACMG : . ExAC_cnvZ : 0.822812574489605 ExAC_delZ : 0.689341211351565 ExAC_dupZ : 0.604934826074449 ExAC_synZ : 0.22637650585998 ExAC_misZ : 1.16930552079213 GenCC_disease : primordial dwarfism-immunodeficiency-lipodystrophy syndrome GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : 33060134 NCBI_gene_ID : 5557 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_000946 Tx_version : 3 Tx_start : 56731579 Tx_end : 56752323 Exon_count : 13 Overlapped_tx_length : 20744 Overlapped_CDS_length : 1263 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56731579 Intersect_end : 56752323 |
0.8569Exomiser_gene_pheno_score : 0.8569 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome; Tapered finger Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:56731580-56752323P_loss_coord : 12:56731580-56752323 P_loss_source : morbid:PRIM1 P_loss_phen : Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, 620005 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ALX1Gene_name : ALX1; LOEUF_bin : 3 GnomAD_pLI : 1.7618e-01 ExAC_pLI : 6.0033e-01 HI : . TS : . DDD_HI_percent : 9.77 ACMG : . ExAC_cnvZ : 0.421420754039277 ExAC_delZ : -0.426865339994389 ExAC_dupZ : 0.86581312423868 ExAC_synZ : 0.772641960302058 ExAC_misZ : 1.22470242366057 GenCC_disease : frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 20451171; 20451171[PMID]; 23059813; 27324866; 35127681; 8673125 NCBI_gene_ID : 8092 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_006982 Tx_version : 3 Tx_start : 85280219 Tx_end : 85301784 Exon_count : 4 Overlapped_tx_length : 21565 Overlapped_CDS_length : 981 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 85280219 Intersect_end : 85301784 |
0.7551Exomiser_gene_pheno_score : 0.7551 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Hypoplasia of the frontal bone Mouse_pheno_evidence : Craniosynostosis; acrania Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.38 |
.RE_gene : . |
12:85280220-85301784P_loss_coord : 12:85280220-85301784 P_loss_source : morbid:ALX1 P_loss_phen : Frontonasal dysplasia 3, 613456 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:85080468-85303522 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATP6V0A2Gene_name : ATP6V0A2; LOEUF_bin : 4 GnomAD_pLI : 2.6314e-11 ExAC_pLI : 4.7381e-06 HI : 30 TS : 0 DDD_HI_percent : 46.77 ACMG : . ExAC_cnvZ : 0.651053003240021 ExAC_delZ : -0.146783475295934 ExAC_dupZ : 1.06728894691475 ExAC_synZ : 0.702579436006219 ExAC_misZ : 0.146292937485518 GenCC_disease : autosomal recessive cutis laxa type 2, classic type; autosomal recessive cutis laxa type 2A; wrinkly skin syndrome GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15657616; 18157129; 18157129[PMID]; 19321599; 20301755[PMID]_19321599[PMID]_18157129[PMID]; 23963297; 27896089 NCBI_gene_ID : 23545 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_012463 Tx_version : 4 Tx_start : 123712352 Tx_end : 123761755 Exon_count : 20 Overlapped_tx_length : 49403 Overlapped_CDS_length : 2571 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123712352 Intersect_end : 123761755 |
0.7291Exomiser_gene_pheno_score : 0.7291 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Fragile nails; Wormian bones; Wrinkly skin syndrome Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Craniosynostosis PhenoGenius_score : 0.5 |
.RE_gene : . |
12:123736186-123761755P_loss_coord : 12:123736186-123761755 P_loss_source : morbid:ATP6V0A2 P_loss_phen : Cutis laxa, AR, type IIA, 219200 (3) AR; Wrinkly skin syndrome, 278250 (3) AR P_loss_hpo : . |
18P_snvindel_nb : 18 P_snvindel_phen : ALG9_congenital_disorder_of_glycosylation; Cutis_laxa; Cutis_laxa_with_osteodystrophy; Wrinkly_skin_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CHST11Gene_name : CHST11; LOEUF_bin : 2 GnomAD_pLI : 4.0602e-01 ExAC_pLI : 3.9839e-01 HI : . TS : . DDD_HI_percent : 16.43 ACMG : . ExAC_cnvZ : 0.778571156092532 ExAC_delZ : 0.359697117358891 ExAC_dupZ : 0.675523846244887 ExAC_synZ : 0.39032652901992 ExAC_misZ : 2.38136978625447 GenCC_disease : osteochondrodysplasia, brachydactyly, and overlapping malformed digits GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 16079159; 26436107; 29514872 NCBI_gene_ID : 50515 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_018413 Tx_version : 6 Tx_start : 104456947 Tx_end : 104762014 Exon_count : 3 Overlapped_tx_length : 305067 Overlapped_CDS_length : 1059 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104456947 Intersect_end : 104762014 |
0.7407Exomiser_gene_pheno_score : 0.7407 Human_pheno_evidence : ?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits; Brachydactyly Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal phalanx morphology; domed cranium Fish_pheno_evidence : . |
BPhenoGenius_specificity : B PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 1.71 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PAHGene_name : PAH; LOEUF_bin : 8 GnomAD_pLI : 6.4046e-23 ExAC_pLI : 1.1952e-10 HI : 30 TS : 0 DDD_HI_percent : 20.97 ACMG : . ExAC_cnvZ : 1.30399273926204 ExAC_delZ : 0.848616712502524 ExAC_dupZ : 1.12017290598088 ExAC_synZ : -0.423165376241366 ExAC_misZ : -1.50534773821518 GenCC_disease : classic phenylketonuria; maternal phenylketonuria; mild hyperphenylalaninemia; mild phenylketonuria; phenylketonuria; tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 11935335; 12409276[PMID]; 1301187; 1301193; 1301200; 1301201; 1301947; 1312992; 1349576; 1358789; 1360590; 1363837; 1363838; 1671810; 1671881; 1679030; 1682235; 1709636; 1769645; 1915502[PMID]; 1975559; 1997387; 2014802; 20301677[PMID]; 2035532; 2044609; 2071149; 2309142; 2564729; 2573272; 2574002; 2606484; 2816939; 2840952; 2884570; 3008810; 7981714; 8088845; 8097261; 8098245; 8364546; 8829656; 9119379; 9634518; 9950317 NCBI_gene_ID : 5053 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001354304 Tx_version : 2 Tx_start : 102836888 Tx_end : 102958441 Exon_count : 14 Overlapped_tx_length : 121553 Overlapped_CDS_length : 1359 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102836888 Intersect_end : 102958441 |
0.7339Exomiser_gene_pheno_score : 0.7339 Human_pheno_evidence : Brachydactyly; Maternal phenylketonuria Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; microphthalmia Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.11 |
.RE_gene : . |
12:102840517-102851686; 12:102843646-10284695[...]P_loss_coord : 12:102840517-102851686; 12:102843646-102846950; 12:102851253-102856068; 12:102851254-102856067; 12:102852796-102877570; 12:102853828-102917244; 12:102854489-102855290; 12:102854490-102855289; 12:102854491-102855289; 12:102854492-102855289; 12:102854999-102866649; 12:102855117-102855352; 12:102855127-102855342; 12:102855175-102855352; 12:102865713-102871067; 12:102865714-102871066; 12:102866370-102868041; 12:102866371-102868040; 12:102866577-102866683; 12:102866587-102866673; 12:102866595-102866663; 12:102894726-102894931; 12:102894736-102894918; 12:102917062-102917140; 12:102917539-102921296 P_loss_source : CLN:1053674; CLN:1053684; CLN:1053685; CLN:108417; CLN:2843200; CLN:462157; dbVar:nssv15119635; nssv17059609; dbVar:nssv15129203; dbVar:nssv15130212; dbVar:nssv15130213; dbVar:nssv15222951; dbVar:nssv15770107; dbVar:nssv15770275; dbVar:nssv16212451; dbVar:nssv16213855; dbVar:nssv16215138; dbVar:nssv16296925; dbVar:nssv17059581; dbVar:nssv17059592; dbVar:nssv17059610; dbVar:nssv17171637; dbVar:nssv17955840; dbVar:nssv17970902; dbVar:nssv18788907; morbid:PAH P_loss_phen : Phenylketonuria; Phenylketonuria, 261600 (3) AR; Hyperphenylalaninemia, non-PKU mild, 261600 (3) AR; |Phenylketonuria P_loss_hpo : . |
446P_snvindel_nb : 446 P_snvindel_phen : 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency; Hyperphenylalaninemia; Inborn_genetic_diseases; Intellectual_disability; Marfanoid_habitus_and_intellectual_disability; PAH-related_condition; Phenylketonuria; Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis; Reduced_phenylalanine_hydroxylase_level; See_cases; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SMARCD1Gene_name : SMARCD1; LOEUF_bin : 0 GnomAD_pLI : 9.9947e-01 ExAC_pLI : 9.9953e-01 HI : . TS : . DDD_HI_percent : 16.65 ACMG : . ExAC_cnvZ : 1.09282314291385 ExAC_delZ : 1.23775454157152 ExAC_dupZ : 0.763972036328425 ExAC_synZ : 0.733314924392481 ExAC_misZ : 4.02732002897701 GenCC_disease : Coffin-Siris syndrome; Coffin-Siris syndrome 11; autism, susceptibility to, 15 GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 30879640; 30879640[PMID] NCBI_gene_ID : 6602 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_003076 Tx_version : 5 Tx_start : 50085341 Tx_end : 50100707 Exon_count : 13 Overlapped_tx_length : 15366 Overlapped_CDS_length : 1548 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50085341 Intersect_end : 50100707 |
0.6414Exomiser_gene_pheno_score : 0.6414 Human_pheno_evidence : Coffin-Siris syndrome 11; Craniosynostosis; Prominent metopic ridge Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.16 |
.RE_gene : . |
12:50085342-50100707P_loss_coord : 12:50085342-50100707 P_loss_source : morbid:SMARCD1 P_loss_phen : Coffin-Siris syndrome 11, 618779 (3) AD P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Coffin-Siris_syndrome_11 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ANO6Gene_name : ANO6; LOEUF_bin : 6 GnomAD_pLI : 7.3158e-32 ExAC_pLI : 4.5245e-20 HI : . TS : . DDD_HI_percent : 55.4 ACMG : . ExAC_cnvZ : -0.0451893435032964 ExAC_delZ : 0.735205299042624 ExAC_dupZ : -0.45178104782056 ExAC_synZ : -0.147305481610779 ExAC_misZ : 0.348752019086184 GenCC_disease : Scott syndrome GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 21107324; 21107324[PMID]_21511967[PMID]; 21511967; 27879994 NCBI_gene_ID : 196527 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001204803 Tx_version : 2 Tx_start : 45216094 Tx_end : 45432349 Exon_count : 21 Overlapped_tx_length : 216255 Overlapped_CDS_length : 2796 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45216094 Intersect_end : 45432349 |
0.7939Exomiser_gene_pheno_score : 0.7939 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; absent olecranon; wide cranial sutures Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:45292690-45432349P_loss_coord : 12:45292690-45432349 P_loss_source : morbid:ANO6 P_loss_phen : Scott syndrome, 262890 (3) AR P_loss_hpo : . |
5P_snvindel_nb : 5 P_snvindel_phen : ANO6-related_condition; SCOTT_SYNDROME |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LEMD3Gene_name : LEMD3; LOEUF_bin : 0 GnomAD_pLI : 9.9877e-01 ExAC_pLI : 9.9897e-01 HI : 3 TS : 0 DDD_HI_percent : 36.92 ACMG : . ExAC_cnvZ : 0.753282875936535 ExAC_delZ : 0.919345244345633 ExAC_dupZ : 0.421641670549132 ExAC_synZ : 2.92791743465858 ExAC_misZ : 2.47447990077036 GenCC_disease : Buschke-Ollendorff syndrome; isolated osteopoikilosis; melorheostosis; melorheostosis with osteopoikilosis GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 121274; 12749062; 15489854; 15489854[PMID]; 15489854[PMID]_17087626[PMID]; 16470551; 17087626; 17223882; 19438932; 20678097; 20732851; 26694706[PMID]; 9295073 NCBI_gene_ID : 23592 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : NM_014319 Tx_version : 5 Tx_start : 65169582 Tx_end : 65248355 Exon_count : 13 Overlapped_tx_length : 78773 Overlapped_CDS_length : 2736 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65169582 Intersect_end : 65248355 |
0.4451Exomiser_gene_pheno_score : 0.4451 Human_pheno_evidence : Brachydactyly; Isolated osteopoikilosis; Syndactyly Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Craniosynostosis PhenoGenius_score : 0.18 |
.RE_gene : . |
12:65169583-65248355; 12:65169584-65248355P_loss_coord : 12:65169583-65248355; 12:65169584-65248355 P_loss_source : HI3:LEMD3; morbid:LEMD3 P_loss_phen : Buschke-Ollendorff syndrome, 166700 (3) AD; Osteopoikilosis with or without melorheostosis, 166700 (3) AD P_loss_hpo : . |
26P_snvindel_nb : 26 P_snvindel_phen : Cerebral_arteriovenous_malformation; Dermatofibrosis_lenticularis_disseminata; Dermatofibrosis_lenticularis_disseminata,_isolated; LEMD3-related_condition; Melorheostosis_with_osteopoikilosis |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CYP27B1Gene_name : CYP27B1; LOEUF_bin : 5 GnomAD_pLI : 1.9194e-07 ExAC_pLI : 3.6016e-06 HI : . TS : . DDD_HI_percent : 46.38 ACMG : . ExAC_cnvZ : -0.985762778905108 ExAC_delZ : -1.41308343606339 ExAC_dupZ : -0.674346201222731 ExAC_synZ : 0.605318244030508 ExAC_misZ : 2.1577587230328 GenCC_disease : vitamin D-dependent rickets, type 1; vitamin D-dependent rickets, type 1A GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 17488797; 22443290; 24818008; 27353739; 9837822; NULL NCBI_gene_ID : 1594 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_000785 Tx_version : 4 Tx_start : 57762333 Tx_end : 57767078 Exon_count : 9 Overlapped_tx_length : 4745 Overlapped_CDS_length : 1527 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57762333 Intersect_end : 57767078 |
0.6691Exomiser_gene_pheno_score : 0.6691 Human_pheno_evidence : Craniosynostosis; Hypocalcemic vitamin D-dependent rickets; Wide cranial sutures Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal radius morphology; decreased bone mineral density Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.24 |
.RE_gene : . |
12:57762334-57767078P_loss_coord : 12:57762334-57767078 P_loss_source : morbid:CYP27B1 P_loss_phen : Vitamin D-dependent rickets, type I, 264700 (3) AR P_loss_hpo : . |
37P_snvindel_nb : 37 P_snvindel_phen : Inborn_genetic_diseases; Vitamin_D-dependent_rickets,_type_1; Vitamin_D-dependent_rickets,_type_1A |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CNOT2Gene_name : CNOT2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9987e-01 HI : 1 TS : 0 DDD_HI_percent : 4.39 ACMG : . ExAC_cnvZ : 0.478829454903821 ExAC_delZ : 1.09825948406245 ExAC_dupZ : 0.0421341328539237 ExAC_synZ : 1.46995640932789 ExAC_misZ : 3.67134252802436 GenCC_disease : intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies GenCC_moi : AD GenCC_classification : Strong GenCC_pmid : 28191890; 30768759; 31145527; 31512373; 36224108 NCBI_gene_ID : 4848 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_001199302 Tx_version : 2 Tx_start : 70243017 Tx_end : 70354993 Exon_count : 17 Overlapped_tx_length : 111976 Overlapped_CDS_length : 1623 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 70243017 Intersect_end : 70354993 |
0.5235Exomiser_gene_pheno_score : 0.5235 Human_pheno_evidence : Brachydactyly; Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies; Short 5th finger Mouse_pheno_evidence : . Fish_pheno_evidence : . |
BPhenoGenius_specificity : B PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.68 |
.RE_gene : . |
12:70278132-70354993P_loss_coord : 12:70278132-70354993 P_loss_source : morbid:CNOT2 P_loss_phen : Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SP7Gene_name : SP7; LOEUF_bin : 2 GnomAD_pLI : 5.8269e-01 ExAC_pLI : 6.6314e-01 HI : . TS : . DDD_HI_percent : 14.44 ACMG : . ExAC_cnvZ : 0.0772030392963045 ExAC_delZ : -0.029069195940474 ExAC_dupZ : 0.0209085634680951 ExAC_synZ : -0.107560145558218 ExAC_misZ : 0.634820658834807 GenCC_disease : osteogenesis imperfecta type 12; osteogenesis imperfecta type 4 GenCC_moi : AD; AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 11792318; 20579626; 21438135[PMID]; 29382611 NCBI_gene_ID : 121340 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001173467 Tx_version : 3 Tx_start : 53326574 Tx_end : 53336354 Exon_count : 3 Overlapped_tx_length : 9780 Overlapped_CDS_length : 1296 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53326574 Intersect_end : 53336354 |
0.7303Exomiser_gene_pheno_score : 0.7303 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Hyperextensibility of the finger joints; Osteogenesis imperfecta, type XII; Wormian bones Mouse_pheno_evidence : Craniosynostosis; failure of bone ossification Fish_pheno_evidence : Craniosynostosis; fibrous joint cranial vault morphology, abnormal |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.07 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KIF21AGene_name : KIF21A; LOEUF_bin : 2 GnomAD_pLI : 2.8650e-08 ExAC_pLI : 6.1801e-05 HI : . TS : . DDD_HI_percent : 32.21 ACMG : . ExAC_cnvZ : 1.33419640834425 ExAC_delZ : 1.74524902452368 ExAC_dupZ : 0.852994823333204 ExAC_synZ : 0.0872741469485114 ExAC_misZ : 1.3471035544537 GenCC_disease : congenital fibrosis of extraocular muscles; congenital fibrosis of extraocular muscles type 1 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 14595441; 15621876; 17511870; 20301522; 20301522[PMID]; 21805025; 24426772; 27513105 NCBI_gene_ID : 55605 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001378439 Tx_version : 1 Tx_start : 39293227 Tx_end : 39443120 Exon_count : 38 Overlapped_tx_length : 149893 Overlapped_CDS_length : 5028 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39293227 Intersect_end : 39443120 |
0.6269Exomiser_gene_pheno_score : 0.6269 Human_pheno_evidence : Brachydactyly; Congenital fibrosis of extraocular muscles; Craniosynostosis; Hand oligodactyly; Plagiocephaly Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.17 |
.RE_gene : . |
12:39293228-39443120P_loss_coord : 12:39293228-39443120 P_loss_source : morbid:KIF21A P_loss_phen : Fibrosis of extraocular muscles, congenital, 1, 135700 (3) AD; Fibrosis of extraocular muscles, congenital, 3B, 135700 (3) AD P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Congenital_fibrosis_of_extraocular_muscles_type_1; Fibrosis_of_extraocular_muscles,_congenital,_3b; KIF21A-related_condition |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
VPS33AGene_name : VPS33A; LOEUF_bin : 2 GnomAD_pLI : 1.8206e-01 ExAC_pLI : 6.8797e-01 HI : . TS : . DDD_HI_percent : 46.3 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 1.02419783314162 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.133397304804875 ExAC_misZ : 1.99550826014367 GenCC_disease : mucopolysaccharidosis-plus syndrome GenCC_moi : AR GenCC_classification : Limited; Moderate; Strong GenCC_pmid : 27547915; 28013294 NCBI_gene_ID : 65082 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_022916 Tx_version : 6 Tx_start : 122229563 Tx_end : 122266494 Exon_count : 13 Overlapped_tx_length : 36931 Overlapped_CDS_length : 1791 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122229563 Intersect_end : 122266494 |
0.6247Exomiser_gene_pheno_score : 0.6247 Human_pheno_evidence : Brachydactyly; Clubbing; Mucopolysaccharidosis-plus syndrome Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; cataract Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.1 |
.RE_gene : . |
12:122252862-122266494P_loss_coord : 12:122252862-122266494 P_loss_source : morbid:VPS33A P_loss_phen : Mucopolysaccharidosis-plus syndrome, 617303 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HNRNPA1Gene_name : HNRNPA1; LOEUF_bin : 0 GnomAD_pLI : 9.9911e-01 ExAC_pLI : 9.6661e-01 HI : . TS : . DDD_HI_percent : 7.87 ACMG : . ExAC_cnvZ : 0.77764756517091 ExAC_delZ : 0.623035203952016 ExAC_dupZ : 0.577444794541286 ExAC_synZ : 0.0593105223728669 ExAC_misZ : 3.29619181973674 GenCC_disease : amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 20; inclusion body myopathy with Paget disease of bone and frontotemporal dementia; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 GenCC_moi : AD GenCC_classification : Strong; Supportive GenCC_pmid : 23455423; 23455423[PMID]; 25002999; 27066560; 27694260; 29033165; 29342275 NCBI_gene_ID : 3178 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_031157 Tx_version : 4 Tx_start : 54280725 Tx_end : 54287087 Exon_count : 11 Overlapped_tx_length : 6362 Overlapped_CDS_length : 1119 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54280725 Intersect_end : 54287087 |
0.6048Exomiser_gene_pheno_score : 0.6048 Human_pheno_evidence : Abnormal calvaria morphology; Craniosynostosis; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Craniosynostosis PhenoGenius_score : 0.12 |
.RE_gene : . |
12:54280726-54287087; 12:54284195-54284353P_loss_coord : 12:54280726-54287087; 12:54284195-54284353 P_loss_source : dbVar:nssv18830971; morbid:HNRNPA1 P_loss_phen : ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3) AD; ?Myopathy, distal, 3, 610099 (3) AD; Amyotrophic lateral sclerosis 20, 615426 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RPS26Gene_name : RPS26; LOEUF_bin : 2 GnomAD_pLI : 8.4833e-01 ExAC_pLI : 7.5334e-01 HI : 3 TS : 0 DDD_HI_percent : 45.57 ACMG : . ExAC_cnvZ : 0.707284973587568 ExAC_delZ : 0.554913808751377 ExAC_dupZ : 0.517150848137641 ExAC_synZ : 0.660380116025978 ExAC_misZ : 3.1505544981897 GenCC_disease : Diamond-Blackfan anemia; Diamond-Blackfan anemia 10 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 20116044; 20301769[PMID]; 23718193; 24675553; 24942156; 25946618; 31277601 NCBI_gene_ID : 6231 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001029 Tx_version : 5 Tx_start : 56041917 Tx_end : 56044697 Exon_count : 4 Overlapped_tx_length : 2780 Overlapped_CDS_length : 348 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56041917 Intersect_end : 56044697 |
0.5165Exomiser_gene_pheno_score : 0.5165 Human_pheno_evidence : Brachydactyly; Diamond-Blackfan anemia; Short thumb Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:56041918-56044697; 12:56041919-56044697P_loss_coord : 12:56041918-56044697; 12:56041919-56044697 P_loss_source : HI3:RPS26; morbid:RPS26 P_loss_phen : Diamond-Blackfan anemia 10, 613309 (3) AD P_loss_hpo : . |
16P_snvindel_nb : 16 P_snvindel_phen : Bone_marrow_hypocellularity; Diamond-Blackfan_anemia; Diamond-Blackfan_anemia_10; Diamond-Blackfan_anemia_15_with_mandibulofacial_dysostosis; See_cases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
UBE3BGene_name : UBE3B; LOEUF_bin : 2 GnomAD_pLI : 4.1871e-08 ExAC_pLI : 9.3877e-03 HI : 30 TS : 0 DDD_HI_percent : 57.19 ACMG : . ExAC_cnvZ : 0.807145286006778 ExAC_delZ : 0.41052529709413 ExAC_dupZ : 0.889081311281341 ExAC_synZ : 0.991054208358146 ExAC_misZ : 1.04975463586286 GenCC_disease : blepharophimosis - intellectual disability syndrome due to UBE3B deficiency; oculocerebrofacial syndrome, Kaufman type GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 21567902; 23200864; 23687348; 23687348[PMID]; 24615390; 251204; 251340; 251364; 251482; 25691420 NCBI_gene_ID : 89910 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_130466 Tx_version : 4 Tx_start : 109477633 Tx_end : 109536702 Exon_count : 28 Overlapped_tx_length : 59069 Overlapped_CDS_length : 3207 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109477633 Intersect_end : 109536702 |
0.6124Exomiser_gene_pheno_score : 0.6124 Human_pheno_evidence : Arachnodactyly; Brachycephaly; Brachydactyly; Craniosynostosis; Oculocerebrofacial syndrome, Kaufman type Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.11 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
26P_snvindel_nb : 26 P_snvindel_phen : Blepharophimosis_-_intellectual_disability_syndrome; Inborn_genetic_diseases; Oculocerebrofacial_syndrome,_Kaufman_type |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
VDRGene_name : VDR; LOEUF_bin : 4 GnomAD_pLI : 1.6787e-05 ExAC_pLI : 3.9213e-01 HI : . TS : . DDD_HI_percent : 1.92 ACMG : . ExAC_cnvZ : 0.721043427036143 ExAC_delZ : 0.570727807044102 ExAC_dupZ : 0.541947258879218 ExAC_synZ : -0.545730717632036 ExAC_misZ : 1.17037188004649 GenCC_disease : vitamin D-dependent rickets, type 2; vitamin D-dependent rickets, type 2A GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 10204116; 11564167; 17970811; 2177843; 24246681; 2557627; 2558018; 2849209; 3024987; 8392085; 8675579; 8961271; 9005998; 9284761[PMID]; 9360557 NCBI_gene_ID : 7421 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001364085 Tx_version : 2 Tx_start : 47841536 Tx_end : 47904994 Exon_count : 10 Overlapped_tx_length : 63458 Overlapped_CDS_length : 1485 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47841536 Intersect_end : 47904994 |
0.6314Exomiser_gene_pheno_score : 0.6314 Human_pheno_evidence : Craniosynostosis; Rickets, vitamin D-resistant, type IIA; Widely patent fontanelles and sutures Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal bone ossification; abnormal limb bone morphology Fish_pheno_evidence : Craniosynostosis; ossification involved in bone maturation delayed, abnormal |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.18 |
.RE_gene : . |
12:47841537-47904994; 12:47844076-47844850P_loss_coord : 12:47841537-47904994; 12:47844076-47844850 P_loss_source : CLN:2861361; morbid:VDR P_loss_phen : Rickets, vitamin D-resistant, type IIA, 277440 (3) AR P_loss_hpo : . |
13P_snvindel_nb : 13 P_snvindel_phen : Vitamin_D-dependent_rickets_type_II_with_alopecia |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HMGA2Gene_name : HMGA2; LOEUF_bin : 2 GnomAD_pLI : 8.7015e-01 ExAC_pLI : 7.3385e-01 HI : 1 TS : 0 DDD_HI_percent : 1.82 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.828051409481478 ExAC_misZ : 1.50577262856403 GenCC_disease : Silver-Russell syndrome 5; uterine corpus leiomyoma GenCC_moi : AD GenCC_classification : Limited; No Known Disease Relationship; Strong GenCC_pmid : 19132395; 19765681; 22887875; 25809938; 28796236; 29453418; 29501611; 29655892 NCBI_gene_ID : 8091 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : NM_001300919 Tx_version : 1 Tx_start : 65824459 Tx_end : 65915527 Exon_count : 4 Overlapped_tx_length : 91068 Overlapped_CDS_length : 444 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65824459 Intersect_end : 65915527 |
0.6065Exomiser_gene_pheno_score : 0.6065 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Frontal bossing; Short 5th finger; Silver-Russell syndrome due to a point mutation Mouse_pheno_evidence : Craniosynostosis; decreased cranium width Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.2 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Silver-Russell_syndrome_1; Silver-Russell_syndrome_5 |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CEP290Gene_name : CEP290; LOEUF_bin : 5 GnomAD_pLI : 1.0549e-60 ExAC_pLI : 1.0391e-34 HI : 30 TS : 0 DDD_HI_percent : 13.34 ACMG : . ExAC_cnvZ : 0.330514096986351 ExAC_delZ : 0.22533823471436 ExAC_dupZ : 0.335258212314732 ExAC_synZ : -2.01006074934114 ExAC_misZ : -1.90443165293259 GenCC_disease : Bardet-Biedl syndrome; Bardet-Biedl syndrome 14; CEP290-related ciliopathy; Joubert syndrome 5; Joubert syndrome with oculorenal defect; Leber congenital amaurosis; Leber congenital amaurosis 10; Meckel syndrome; Senior-Loken syndrome GenCC_moi : AD; AR GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 16682970; 16682973; 16909394; 17345604; 17554762; 17564967; 17564974; 17705300; 18327255; 20301537[PMID]; 20615230[PMID]_20301500[PMID]; 20690115; 21110233[PMID]_19466712[PMID]_17564974[PMID]; 22355252; 22819833[PMID]; 23943788; 25685757[PMID]_20301475[PMID]; 27434533; 27486776; 28559085 NCBI_gene_ID : 80184 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : 5'UTR-3'UTR Tx : XM_011538756 Tx_version : 4 Tx_start : 88049015 Tx_end : 88142088 Exon_count : 57 Overlapped_tx_length : 93073 Overlapped_CDS_length : 8310 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88049015 Intersect_end : 88142088 |
0.6248Exomiser_gene_pheno_score : 0.6248 Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Foot polydactyly; Joubert syndrome with oculorenal defect Mouse_pheno_evidence : Craniosynostosis; abnormal head shape Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.34 |
.RE_gene : . |
12:88049185-88059040; 12:88049382-88085170; 1[...]P_loss_coord : 12:88049185-88059040; 12:88049382-88085170; 12:88053643-88054423; 12:88058829-88101183; 12:88058839-88060030; 12:88064143-88142088; 12:88071275-88071946; 12:88077213-88079239; 12:88086020-88121186; 12:88107100-88114419; 12:88117024-88117155; 12:88118474-88125379; 12:88130289-88130341; 12:88130290-88130340 P_loss_source : CLN:1497314; dbVar:nssv15770298; dbVar:nssv17172884; dbVar:nssv17968917; dbVar:nssv17968931; dbVar:nssv17968937; dbVar:nssv17968968; dbVar:nssv17968972; dbVar:nssv17970986; dbVar:nssv18787735; dbVar:nssv18787736; dbVar:nssv18787737; dbVar:nssv18792607; morbid:CEP290 P_loss_phen : ?Bardet-Biedl syndrome 14, 615991 (3) AR; Joubert syndrome 5, 610188 (3) AR; Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3) AR; Senior-Loken syndrome 6, 610189 (3) AR; Meckel-Gruber_syndrome|Nephronophthisis|Familial_aplasia_of_the_vermis P_loss_hpo : HP:0000090; HP:0004748 |
450P_snvindel_nb : 450 P_snvindel_phen : Abnormal_facial_shape; Abnormality_of_prenatal_development_or_birth; Abnormality_of_the_kidney; Abnormality_of_the_nervous_system; Bardet-Biedl_syndrome_14; Blindness; CEP290-Related_Disorders; CEP290-related_ciliopathy; CEP290-related_condition; COG7_congenital_disorder_of_glycosylation; Central_hypotonia; Cerebellar_cyst; Cerebellar_vermis_hypoplasia; Cone-rod_dystrophy; Congenital_blindness; Cystic_renal_dysplasia; Encephalocele; Familial_aplasia_of_the_vermis; Global_developmental_delay; Hyperechogenic_kidneys; Hypotonia; Inborn_genetic_diseases; Intellectual_disability; Joubert_syndrome_1; Joubert_syndrome_5; Kidney_disorder; Leber_congenital_amaurosis; Leber_congenital_amaurosis_10; Meckel-Gruber_syndrome; Meckel_syndrome,_type_4; Meckel_syndrome,_type_6; Micrognathia; Molar_tooth_sign_on_MRI; Nephronophthisis; Night_blindness; Nystagmus; Occipital_encephalocele; Polycystic_kidney_disease; Renal_dysplasia_and_retinal_aplasia; Retinal_dystrophy; Retinitis_pigmentosa; Rod-cone_dystrophy; See_cases; Senior-Loken_syndrome_6; Severe_hydrocephalus; Spastic_ataxia; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPP1R12AGene_name : PPP1R12A; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9918e-01 HI : . TS : . DDD_HI_percent : 2.14 ACMG : . ExAC_cnvZ : -0.649377114855365 ExAC_delZ : 0.510245954541358 ExAC_dupZ : -1.1125411580585 ExAC_synZ : -1.88465820613207 ExAC_misZ : 0.902272839321398 GenCC_disease : genitourinary and/or brain malformation syndrome GenCC_moi : AD GenCC_classification : Strong GenCC_pmid : 10208747; 12505998; 19515695; 26113782; 28191890; 28941034; 31883643 NCBI_gene_ID : 4659 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2-q21.31 Location2 : 5'UTR-3'UTR Tx : NM_001143885 Tx_version : 2 Tx_start : 79773567 Tx_end : 79935460 Exon_count : 26 Overlapped_tx_length : 161893 Overlapped_CDS_length : 3093 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 79773567 Intersect_end : 79935460 |
0.6507Exomiser_gene_pheno_score : 0.6507 Human_pheno_evidence : Acrania; Brachydactyly; Craniosynostosis; Genitourinary and/or/brain malformation syndrome; Syndactyly Mouse_pheno_evidence : . Fish_pheno_evidence : Craniosynostosis; head surface feature shape, abnormal |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:79773568-79935460; 12:79793864-79828464; 1[...]P_loss_coord : 12:79773568-79935460; 12:79793864-79828464; 12:79845283-79934931 P_loss_source : dbVar:nssv18791811; dbVar:nssv18792790; morbid:PPP1R12A P_loss_phen : Genitourinary and; or; brain malformation syndrome, 618820 (3) AD P_loss_hpo : . |
4P_snvindel_nb : 4 P_snvindel_phen : Genitourinary_and/or_brain_malformation_syndrome; PPP1R12A-related_condition |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MARS1Gene_name : MARS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease axonal type 2U; autosomal recessive spastic paraplegia type 70; severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; spastic paraplegia 70, autosomal recessive; trichothiodystrophy 9, nonphotosensitive GenCC_moi : AD; AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 23729695; 23729695[PMID]; 24103465; 24103465[PMID]_25913036[PMID]; 24354524; 24482476; 24482476[PMID]; 25913036; 27025386; 27717217; 29582526; 30271085; 33909043; 34585293; 35723632 NCBI_gene_ID : 4141 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_004990 Tx_version : 4 Tx_start : 57488067 Tx_end : 57516652 Exon_count : 21 Overlapped_tx_length : 28585 Overlapped_CDS_length : 2703 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57488067 Intersect_end : 57516652 |
156560; OMIM_ID : 156560; OMIM_phenotype : ?Trichothiodystrophy 9, nonphotosensitive, 619692 (3) AR; Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3) AD; Interstitial lung and liver disease, 615486 (3) AR; Spastic paraplegia 70, AR, 620323 (3) AR; OMIM_inheritance : AD; AR OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.7421Exomiser_gene_pheno_score : 0.7421 Human_pheno_evidence : ?Trichothiodystrophy 9, nonphotosensitive; Brachydactyly Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.08 |
.RE_gene : . |
12:57489491-57516652P_loss_coord : 12:57489491-57516652 P_loss_source : morbid:MARS1 P_loss_phen : ?Trichothiodystrophy 9, nonphotosensitive, 619692 (3) AR; Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3) AD; Interstitial lung and liver disease, 615486 (3) AR; Spastic paraplegia 70, AR, 620323 (3) AR P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Charcot-Marie-Tooth_disease_axonal_type_2U; Inborn_genetic_diseases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ACVRL1Gene_name : ACVRL1; LOEUF_bin : 3 GnomAD_pLI : 9.6719e-04 ExAC_pLI : 7.9411e-03 HI : 3 TS : 0 DDD_HI_percent : 49.42 ACMG : ACMG ExAC_cnvZ : 0.868259636141919 ExAC_delZ : 0.716992278987793 ExAC_dupZ : 0.712040252808786 ExAC_synZ : 0.437515459929984 ExAC_misZ : 2.19602459654767 GenCC_disease : hereditary hemorrhagic telangiectasia; telangiectasia, hereditary hemorrhagic, type 2 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 10716993; 10946360; 12588795; 12843319; 15879500; 16542389; 16690726; 16752392; 20301525[PMID]; 20414677 NCBI_gene_ID : 94 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001406487 Tx_version : 1 Tx_start : 51906943 Tx_end : 51923361 Exon_count : 11 Overlapped_tx_length : 16418 Overlapped_CDS_length : 1512 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51906943 Intersect_end : 51923361 |
0.4776Exomiser_gene_pheno_score : 0.4776 Human_pheno_evidence : Brachydactyly; Clubbing; Telangiectasia, hereditary hemorrhagic, type 2 Mouse_pheno_evidence : Craniosynostosis; microcephaly Fish_pheno_evidence : Craniosynostosis; basibranchial condensed, abnormal |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:51906945-51923361; 12:51912383-51923361; 1[...]P_loss_coord : 12:51906945-51923361; 12:51912383-51923361; 12:51912456-51920913; 12:51912466-51912545; 12:51912466-51920903; 12:51912476-51914093; 12:51913080-51913790; 12:51913080-51916253; 12:51913090-51916243; 12:51913540-51919135; 12:51913955-51919135; 12:51916017-51916253; 12:51920692-51920903; 12:51920740-51920893; 12:51920740-51920913; 12:51920760-51923361 P_loss_source : HI3:ACVRL1; dbVar:nssv15149447; dbVar:nssv15151618; dbVar:nssv15151619; dbVar:nssv15151620; dbVar:nssv15151908; dbVar:nssv15151973; dbVar:nssv15770049; dbVar:nssv15770674; dbVar:nssv16214579; dbVar:nssv16214609; dbVar:nssv17971432; dbVar:nssv17972409; dbVar:nssv17974410; dbVar:nssv18790984; morbid:ACVRL1 P_loss_phen : Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3) AD P_loss_hpo : . |
306P_snvindel_nb : 306 P_snvindel_phen : ACVRL1-Related_Disorders; ACVRL1-related_condition; Abnormality_of_the_pulmonary_vasculature; Cardiovascular_phenotype; Epistaxis; Pulmonary_arterial_hypertension; Pulmonary_arterial_hypertension_related_to_hereditary_hemorrhagic_telangiectasia; Pulmonary_hypertension,_primary,_1; See_cases; Telangiectasia,_hereditary_hemorrhagic,_type_1; Telangiectasia,_hereditary_hemorrhagic,_type_2; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC13Gene_name : HOXC13; LOEUF_bin : 3 GnomAD_pLI : 4.2048e-01 ExAC_pLI : 3.7936e-01 HI : . TS : . DDD_HI_percent : 32.88 ACMG : . ExAC_cnvZ : 0.643851210536282 ExAC_delZ : 0.219337255344299 ExAC_dupZ : 0.589158254991908 ExAC_synZ : 2.62003578878246 ExAC_misZ : 2.62980983559668 GenCC_disease : ectodermal dysplasia 9, hair/nail type; pure hair and nail ectodermal dysplasia GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 23063621; 23063621[PMID]; 23315978; 23461661; 9420327 NCBI_gene_ID : 3229 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_017410 Tx_version : 3 Tx_start : 53938830 Tx_end : 53946544 Exon_count : 2 Overlapped_tx_length : 7714 Overlapped_CDS_length : 993 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53938830 Intersect_end : 53946544 |
0.6644Exomiser_gene_pheno_score : 0.6644 Human_pheno_evidence : Brachydactyly; Ectodermal dysplasia 9, hair/nail type; Nail dysplasia Mouse_pheno_evidence : Brachydactyly; deformed nails Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:53938831-53946544P_loss_coord : 12:53938831-53946544 P_loss_source : morbid:HOXC13 P_loss_phen : Ectodermal dysplasia 9, hair; nail type, 614931 (3) AR P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATP2B1Gene_name : ATP2B1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 6.13 ACMG : . ExAC_cnvZ : 0.975772760152183 ExAC_delZ : 0.401497821969091 ExAC_dupZ : 1.12964302426027 ExAC_synZ : 0.435807738757206 ExAC_misZ : 5.16234940695875 GenCC_disease : intellectual developmental disorder, autosomal dominant 66 GenCC_moi : AD GenCC_classification : Moderate; Strong GenCC_pmid : 15178683; 28135719; 28191890; 31785789; 33077954; 35358416 NCBI_gene_ID : 490 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_001366524 Tx_version : 1 Tx_start : 89588048 Tx_end : 89709366 Exon_count : 22 Overlapped_tx_length : 121318 Overlapped_CDS_length : 3750 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89588048 Intersect_end : 89709366 |
0.6290Exomiser_gene_pheno_score : 0.6290 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Intellectual developmental disorder, autosomal dominant 66; Plagiocephaly; Toe clinodactyly Mouse_pheno_evidence : Brachydactyly; hindlimb paralysis Fish_pheno_evidence : Craniosynostosis; ceratobranchial cartilage disrupted ossification, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:89611381-89708838P_loss_coord : 12:89611381-89708838 P_loss_source : morbid:ATP2B1 P_loss_phen : Intellectual developmental disorder, AD 66, 619910 (3) AD P_loss_hpo : . |
5P_snvindel_nb : 5 P_snvindel_phen : Intellectual_developmental_disorder,_autosomal_dominant_66; Neurodevelopmental_disorder |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SMARCC2Gene_name : SMARCC2; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 20.29 ACMG : . ExAC_cnvZ : 1.19601277396959 ExAC_delZ : 0.788728078637652 ExAC_dupZ : 1.17112134233694 ExAC_synZ : -0.0101002391837608 ExAC_misZ : 4.43932089052597 GenCC_disease : Coffin-Siris syndrome; Coffin-Siris syndrome 8 GenCC_moi : AD GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 23643363; 25590979; 27392482; 27620904; 30580808; 30580808[PMID] NCBI_gene_ID : 6601 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001330288 Tx_version : 2 Tx_start : 56162358 Tx_end : 56189483 Exon_count : 29 Overlapped_tx_length : 27125 Overlapped_CDS_length : 3738 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56162358 Intersect_end : 56189483 |
0.5271Exomiser_gene_pheno_score : 0.5271 Human_pheno_evidence : Brachydactyly; Coffin-Siris syndrome; Short 5th finger Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.11 |
.RE_gene : . |
12:56171322-56189483P_loss_coord : 12:56171322-56189483 P_loss_source : morbid:SMARCC2 P_loss_phen : Coffin-Siris syndrome 8, 618362 (3) AD P_loss_hpo : . |
14P_snvindel_nb : 14 P_snvindel_phen : Coffin-Siris_syndrome_8; Neurodevelopmental_delay; SMARCC2-related_BAFopathy |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DHX37Gene_name : DHX37; LOEUF_bin : 1 GnomAD_pLI : 9.9252e-01 ExAC_pLI : 9.7848e-01 HI : . TS : . DDD_HI_percent : 66.34 ACMG : . ExAC_cnvZ : -0.563904411957432 ExAC_delZ : 0.22213011770119 ExAC_dupZ : -0.90153249437189 ExAC_synZ : 0.136657816061683 ExAC_misZ : 2.26887569301177 GenCC_disease : 46,XY complete gonadal dysgenesis; 46,XY partial gonadal dysgenesis; 46,XY sex reversal 11; neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; testicular regression syndrome GenCC_moi : AD; AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 26539891; 31256877; 31287541[PMID]; 31337883[PMID] NCBI_gene_ID : 57647 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_005253590 Tx_version : 4 Tx_start : 124947908 Tx_end : 124989131 Exon_count : 26 Overlapped_tx_length : 41223 Overlapped_CDS_length : 3528 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124947908 Intersect_end : 124989131 |
0.6315Exomiser_gene_pheno_score : 0.6315 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; Plagiocephaly; Small nail Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.06 |
.RE_gene : . |
12:124952814-124989131P_loss_coord : 12:124952814-124989131 P_loss_source : morbid:DHX37 P_loss_phen : 46XY sex reversal 11, 273250 (3) AD; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : 46,XY_sex_reversal_11 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TUBA1AGene_name : TUBA1A; LOEUF_bin : 1 GnomAD_pLI : 9.6654e-01 ExAC_pLI : 8.3654e-01 HI : 0 TS : 0 DDD_HI_percent : 4.83 ACMG : . ExAC_cnvZ : 1.71063557993542 ExAC_delZ : 1.34314900008626 ExAC_dupZ : 1.46630702544545 ExAC_synZ : 2.04104248502179 ExAC_misZ : 6.10695831604698 GenCC_disease : intellectual disability, autosomal dominant 40; lissencephaly due to TUBA1A mutation; tubulinopathy-associated dysgyria GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 17218254; 17584854; 18669490[PMID]_18954413[PMID]_22264709[PMID]; 18728072; 18954413; 20466733; 20603323; 21403111; 26130693; 26130693[PMID]; 30016746; 30517687; 30744660; 33649541 NCBI_gene_ID : 7846 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001270399 Tx_version : 2 Tx_start : 49184794 Tx_end : 49189080 Exon_count : 4 Overlapped_tx_length : 4286 Overlapped_CDS_length : 1356 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49184794 Intersect_end : 49189080 |
0.6269Exomiser_gene_pheno_score : 0.6269 Human_pheno_evidence : Brachydactyly; Congenital fibrosis of extraocular muscles; Craniosynostosis; Hand oligodactyly; Plagiocephaly Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:49184795-49189080P_loss_coord : 12:49184795-49189080 P_loss_source : morbid:TUBA1A P_loss_phen : Lissencephaly 3, 611603 (3) AD P_loss_hpo : . |
89P_snvindel_nb : 89 P_snvindel_phen : Abnormal_brainstem_morphology; Abnormal_cortical_gyration; Abnormality_of_neuronal_migration; Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D; Cerebral_palsy; Congenital_bilateral_perisylvian_syndrome; Congenital_fibrosis_of_extraocular_muscles; Corpus_callosum,_agenesis_of; Cryptorchidism; Decreased_head_circumference; Global_developmental_delay; Inborn_genetic_diseases; Lissencephaly; Lissencephaly_due_to_TUBA1A_mutation; Lissencephaly_type_3; Neurodevelopmental_disorder; Rare_genetic_intellectual_disability; Seizure; TUBA1A-associated_tubulinopathy; TUBA1A-related_condition; Tubulinopathy; Tubulinopathy-associated_dysgyria; West_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HNF1AGene_name : HNF1A; LOEUF_bin : 1 GnomAD_pLI : 9.6115e-01 ExAC_pLI : 9.6966e-01 HI : 3 TS : 0 DDD_HI_percent : 35.48 ACMG : ACMG ExAC_cnvZ : -0.170697191793204 ExAC_delZ : 0.412997980718427 ExAC_dupZ : -0.44416242953495 ExAC_synZ : -1.44023068288233 ExAC_misZ : 1.17267905280062 GenCC_disease : diabetes mellitus, noninsulin-dependent; hyperinsulinism due to HNF1A deficiency; maturity-onset diabetes of the young; maturity-onset diabetes of the young type 3; monogenic diabetes; nonpapillary renal cell carcinoma; type 1 diabetes mellitus 20 GenCC_moi : AD GenCC_classification : Definitive; No Known Disease Relationship; Strong; Supportive GenCC_pmid : 10417964; 15649945; 15928245; 16917892; 18003757; 21844708[PMID]_22498247[PMID]; 22432108; 22802087[PMID]_25733449[PMID]; 8945470; 9097962; 9112026 NCBI_gene_ID : 6927 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_024449168 Tx_version : 2 Tx_start : 120978542 Tx_end : 121002512 Exon_count : 9 Overlapped_tx_length : 23970 Overlapped_CDS_length : 1989 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120978542 Intersect_end : 121002512 |
142410; OMIM_ID : 142410; OMIM_phenotype : Diabetes mellitus, insulin-dependent, 20, 612520 (3); Hepatic adenoma, somatic, 142330 (3); MODY, type III, 600496 (3) AD; Renal cell carcinoma, 144700 (3); (Diabetes mellitus, insulin-dependent), 222100 (3) AR; (Diabetes mellitus, noninsulin-dependent, 2), 125853 (3) AD; OMIM_inheritance : AD; AR OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.4187Exomiser_gene_pheno_score : 0.4187 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:120978543-121002512; 12:120978544-12100251[...]P_loss_coord : 12:120978543-121002512; 12:120978544-121002512; 12:120999281-120999453 P_loss_source : CLN:794043; HI3:HNF1A; morbid:HNF1A P_loss_phen : Diabetes mellitus, insulin-dependent, 20, 612520 (3); Hepatic adenoma, somatic, 142330 (3); MODY, type III, 600496 (3) AD; Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 222100 (3) AR; Diabetes mellitus, noninsulin-dependent, 2, 125853 (3) AD; |Maturity_onset_diabetes_mellitus_in_young P_loss_hpo : HP:0004904 |
157P_snvindel_nb : 157 P_snvindel_phen : Clear_cell_carcinoma_of_kidney; DiGeorge_syndrome; Diabetes_mellitus; Diabetes_mellitus_type_1; HNF1A-related_condition; Hepatic_adenomas,_familial; Hyperinsulinism_due_to_HNF1A_deficiency; Maturity-onset_diabetes_of_the_young_type_3; Maturity_onset_diabetes_mellitus_in_young; Monogenic_diabetes; Nonpapillary_renal_cell_carcinoma; Type_1_diabetes_mellitus_20; Type_2_diabetes_mellitus; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SETD1BGene_name : SETD1B; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 2.2456e-02 HI : . TS : . DDD_HI_percent : 63.56 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.958413334281874 ExAC_misZ : 1.48188111834667 GenCC_disease : intellectual developmental disorder with seizures and language delay GenCC_moi : AD GenCC_classification : Moderate; Strong GenCC_pmid : 27106595; 29276005; 29322246; 31110234; 31440728; 344631 NCBI_gene_ID : 23067 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_047428553 Tx_version : 1 Tx_start : 121790154 Tx_end : 121832656 Exon_count : 17 Overlapped_tx_length : 42502 Overlapped_CDS_length : 5901 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121790154 Intersect_end : 121832656 |
0.5909Exomiser_gene_pheno_score : 0.5909 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Flat occiput; Intellectual developmental disorder with seizures and language delay; Tapered finger Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:121804374-121832656P_loss_coord : 12:121804374-121832656 P_loss_source : morbid:SETD1B P_loss_phen : Intellectual developmental disorder with seizures and language delay, 619000 (3) AD P_loss_hpo : . |
27P_snvindel_nb : 27 P_snvindel_phen : Inborn_genetic_diseases; Intellectual_developmental_disorder_with_seizures_and_language_delay; Neurodevelopmental_delay; Neurodevelopmental_disorder; See_cases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
WNT1Gene_name : WNT1; LOEUF_bin : 3 GnomAD_pLI : 3.2630e-01 ExAC_pLI : 1.0188e-01 HI : . TS : . DDD_HI_percent : 1.94 ACMG : . ExAC_cnvZ : 0.938150248988854 ExAC_delZ : 0.489107818319706 ExAC_dupZ : 0.89157295497882 ExAC_synZ : 3.03887244746425 ExAC_misZ : 3.78431743868561 GenCC_disease : idiopathic juvenile osteoporosis; osteogenesis imperfecta type 15; osteogenesis imperfecta type 3; osteogenesis imperfecta type 4 GenCC_moi : AD; AR GenCC_classification : Strong; Supportive GenCC_pmid : 2202907; 23434763; 23434763[PMID]_25046257[PMID]; 23499309; 23499310; 23499310[PMID]_25046257[PMID]; 23656646; 26671912; 28378289; 28866630; 29620724; 30246918; 30283887; 30896082; 32369212; 33195954; 36595228 NCBI_gene_ID : 7471 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_005430 Tx_version : 4 Tx_start : 48978321 Tx_end : 48982620 Exon_count : 4 Overlapped_tx_length : 4299 Overlapped_CDS_length : 1113 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48978321 Intersect_end : 48982620 |
0.6186Exomiser_gene_pheno_score : 0.6186 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal parietal bone morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:48978322-48982620P_loss_coord : 12:48978322-48982620 P_loss_source : morbid:WNT1 P_loss_phen : Osteogenesis imperfecta, type XV, 615220 (3) AR; Osteoporosis, early-onset, susceptibility to, AD, 615221 (3) AD P_loss_hpo : . |
18P_snvindel_nb : 18 P_snvindel_phen : Inborn_genetic_diseases; Osteogenesis_imperfecta; Osteogenesis_imperfecta_type_15; Osteoporosis |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SCYL2Gene_name : SCYL2; LOEUF_bin : 1 GnomAD_pLI : 7.7114e-02 ExAC_pLI : 9.3183e-01 HI : . TS : . DDD_HI_percent : 14.73 ACMG : . ExAC_cnvZ : 0.0844537919381119 ExAC_delZ : 1.08488625973138 ExAC_dupZ : -0.4265986838066 ExAC_synZ : 0.253644490191451 ExAC_misZ : 0.693787524369354 GenCC_disease : arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 26203146; 29437892; 30125339; 31960134 NCBI_gene_ID : 6358 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001330253 Tx_version : 2 Tx_start : 100267176 Tx_end : 100341715 Exon_count : 19 Overlapped_tx_length : 74539 Overlapped_CDS_length : 2802 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100267176 Intersect_end : 100341715 |
0.5942Exomiser_gene_pheno_score : 0.5942 Human_pheno_evidence : Craniosynostosis; Neurogenic arthrogryposis multiplex congenita; Plagiocephaly Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:100267177-100341715P_loss_coord : 12:100267177-100341715 P_loss_source : morbid:SCYL2 P_loss_phen : Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, 618766 (3) AR P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Arthrogryposis_multiplex_congenita_4,_neurogenic,_with_agenesis_of_the_corpus_callosum; Inborn_genetic_diseases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MYF5Gene_name : MYF5; LOEUF_bin : 6 GnomAD_pLI : 2.2918e-04 ExAC_pLI : 1.9034e-03 HI : . TS : . DDD_HI_percent : 1.35 ACMG : . ExAC_cnvZ : 0.402995314067225 ExAC_delZ : -0.185541022479079 ExAC_dupZ : 0.674584967225173 ExAC_synZ : 0.209396457895145 ExAC_misZ : 0.396598508561865 GenCC_disease : ophthalmoplegia, external, with rib and vertebral anomalies GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 19531352; 29887215; 8918877 NCBI_gene_ID : 4617 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_005593 Tx_version : 3 Tx_start : 80716911 Tx_end : 80719671 Exon_count : 3 Overlapped_tx_length : 2760 Overlapped_CDS_length : 768 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80716911 Intersect_end : 80719671 |
0.6428Exomiser_gene_pheno_score : 0.6428 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology; abnormal sternum ossification Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:80716912-80719671P_loss_coord : 12:80716912-80719671 P_loss_source : morbid:MYF5 P_loss_phen : Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:80502697-80806958 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IGF1Gene_name : IGF1; LOEUF_bin : 4 GnomAD_pLI : 2.7160e-01 ExAC_pLI : 4.6952e-01 HI : . TS : . DDD_HI_percent : 0.1 ACMG : . ExAC_cnvZ : 0.275679167635403 ExAC_delZ : 0.106443699917254 ExAC_dupZ : 0.289083410675428 ExAC_synZ : -0.513959432094597 ExAC_misZ : 2.0395837133409 GenCC_disease : growth delay due to insulin-like growth factor type 1 deficiency GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 14684690; 15769976; 19773405; 20668042; 22832530; 31230720; 8857020; 8857020[PMID]_14684690[PMID] NCBI_gene_ID : 3479 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : XM_017019259 Tx_version : 2 Tx_start : 102417490 Tx_end : 102481839 Exon_count : 4 Overlapped_tx_length : 64349 Overlapped_CDS_length : 639 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102417490 Intersect_end : 102481839 |
0.6240Exomiser_gene_pheno_score : 0.6240 Human_pheno_evidence : Brachydactyly; Clinodactyly; Growth delay due to insulin-like growth factor type 1 deficiency Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal long bone hypertrophic chondrocyte zone; delayed endochondral bone ossification Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.08 |
.RE_gene : . |
12:102417491-102481839; 12:102419490-102480381P_loss_coord : 12:102417491-102481839; 12:102419490-102480381 P_loss_source : dbVar:nssv17975160; morbid:IGF1 P_loss_phen : Insulin-like growth factor I deficiency, 608747 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
STAC3Gene_name : STAC3; LOEUF_bin : 4 GnomAD_pLI : 1.7244e-04 ExAC_pLI : 4.8783e-03 HI : . TS : . DDD_HI_percent : 19.43 ACMG : . ExAC_cnvZ : -0.946080720203707 ExAC_delZ : -0.829746098469288 ExAC_dupZ : -1.11792329107077 ExAC_synZ : 0.899120497967634 ExAC_misZ : 0.779664951574005 GenCC_disease : Bailey-Bloch congenital myopathy GenCC_moi : AR GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 23736855; 23736855[PMID]; 28411587; 28777491; 30168660; 33060286; 33820833 NCBI_gene_ID : 246329 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_145064 Tx_version : 3 Tx_start : 57243457 Tx_end : 57251187 Exon_count : 12 Overlapped_tx_length : 7730 Overlapped_CDS_length : 1095 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57243457 Intersect_end : 57251187 |
0.6171Exomiser_gene_pheno_score : 0.6171 Human_pheno_evidence : Brachycephaly; Congenital myopathy 13; Craniosynostosis Mouse_pheno_evidence : Brachydactyly; abnormal sternum morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:57244088-57251187P_loss_coord : 12:57244088-57251187 P_loss_source : morbid:STAC3 P_loss_phen : Congenital myopathy 13, 255995 (3) AR P_loss_hpo : . |
8P_snvindel_nb : 8 P_snvindel_phen : Bailey-Bloch_congenital_myopathy; Inborn_genetic_diseases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT1Gene_name : KRT1; LOEUF_bin : 1 GnomAD_pLI : 7.3629e-01 ExAC_pLI : 9.7362e-01 HI : . TS : . DDD_HI_percent : 61 ACMG : . ExAC_cnvZ : 1.20326280736182 ExAC_delZ : 1.07998315214038 ExAC_dupZ : 0.943547389334036 ExAC_synZ : 1.2122663328743 ExAC_misZ : 0.901082611604732 GenCC_disease : annular epidermolytic ichthyosis; congenital reticular ichthyosiform erythroderma; diffuse nonepidermolytic palmoplantar keratoderma; epidermolytic ichthyosis; ichthyosis hystrix of Curth-Macklin; ichthyosis, annular epidermolytic 1; striate palmoplantar keratoderma GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 10053007; 10053007[PMID]; 10844506; 11286616; 11286630; 11558869; 11982762[PMID]; 12406346; 12406348; 12603866; 1380725[PMID]_7512983[PMID]; 14708600; 15214894; 16361731; 20500210; 20977447; 21271994; 22250628; 22375063; 23132931; 25774499; 25774499[PMID]; 26120802; 26581228; 28121638; 29489036[PMID]; 30288772; 32898404; 7507151; 7511022; 7512983; 8751983; NULL NCBI_gene_ID : 3848 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_006121 Tx_version : 4 Tx_start : 52674735 Tx_end : 52680407 Exon_count : 9 Overlapped_tx_length : 5672 Overlapped_CDS_length : 1935 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52674735 Intersect_end : 52680407 |
139350; OMIM_ID : 139350; OMIM_phenotype : Epidermolytic hyperkeratosis 1, 113800 (3) AD; Ichthyosis histrix, Curth-Macklin type, 146590 (3) AD; Ichthyosis, annular epidermolytic 2, 620148 (3) AD; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 2, 620411 (3) AD; Palmoplantar keratoderma, nonepidermolytic, 600962 (3) AD; OMIM_inheritance : AD OMIM_morbid : yes OMIM_morbid_candidate : . |
0.4866Exomiser_gene_pheno_score : 0.4866 Human_pheno_evidence : Brachydactyly; Clubbing; Epidermolytic palmoplantar keratoderma Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.11 |
.RE_gene : . |
12:52674736-52680407P_loss_coord : 12:52674736-52680407 P_loss_source : morbid:KRT1 P_loss_phen : Epidermolytic hyperkeratosis 1, 113800 (3) AD; Ichthyosis histrix, Curth-Macklin type, 146590 (3) AD; Ichthyosis, annular epidermolytic 2, 620148 (3) AD; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 2, 620411 (3) AD; Palmoplantar keratoderma, nonepidermolytic, 600962 (3) AD P_loss_hpo : . |
14P_snvindel_nb : 14 P_snvindel_phen : Annular_epidermolytic_ichthyosis; Bullous_ichthyosiform_erythroderma; Diffuse_nonepidermolytic_palmoplantar_keratoderma; Epidermolytic_hyperkeratosis_1; Epidermolytic_palmoplantar_keratoderma; Ichthyosis,_annular_epidermolytic,_2; Ichthyosis_hystrix_of_Curth-Macklin; KRT1-related_condition; Keratosis_palmoplantaris_striata_3; Palmoplantar_keratoderma,_epidermolytic,_2 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SYT1Gene_name : SYT1; LOEUF_bin : 2 GnomAD_pLI : 6.0038e-01 ExAC_pLI : 8.3718e-01 HI : . TS : . DDD_HI_percent : 3.9 ACMG : . ExAC_cnvZ : 0.43692817994546 ExAC_delZ : -0.103673409614743 ExAC_dupZ : 0.665917463722675 ExAC_synZ : 0.518726014390384 ExAC_misZ : 2.91822596711159 GenCC_disease : infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome; intellectual disability, autosomal dominant 40 GenCC_moi : AD GenCC_classification : Moderate; Strong GenCC_pmid : 22031440; 25705886; 25712080; 28135719; 30107533 NCBI_gene_ID : 6857 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_001135805 Tx_version : 2 Tx_start : 78863981 Tx_end : 79452008 Exon_count : 12 Overlapped_tx_length : 588027 Overlapped_CDS_length : 1269 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 78863981 Intersect_end : 79452008 |
0.5886Exomiser_gene_pheno_score : 0.5886 Human_pheno_evidence : 2-3 toe syndactyly; Brachydactyly; Brachyturricephaly; Craniosynostosis; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral content Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.07 |
.RE_gene : . |
12:79045692-79452008P_loss_coord : 12:79045692-79452008 P_loss_source : morbid:SYT1 P_loss_phen : Baker-Gordon syndrome, 618218 (3) AD P_loss_hpo : . |
7P_snvindel_nb : 7 P_snvindel_phen : Inborn_genetic_diseases; Infantile_hypotonia-oculomotor_anomalies-hyperkinetic_movements-developmental_delay_syndrome; SYT1-associated_neurodevelopmental_disorder; Syndromic_intellectual_disability |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATP2A2Gene_name : ATP2A2; LOEUF_bin : 0 GnomAD_pLI : 9.9945e-01 ExAC_pLI : 9.9823e-01 HI : . TS : . DDD_HI_percent : 26.18 ACMG : . ExAC_cnvZ : 0.675450984617043 ExAC_delZ : 0.958118507743918 ExAC_dupZ : 0.381362701577102 ExAC_synZ : -0.0400834294048719 ExAC_misZ : 5.54243218279317 GenCC_disease : Darier disease; acrokeratosis verruciformis GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 10080178; 10441324; 10441325; 10970890; 11387203; 11389134; 12072062; 12542527; 12542527[PMID]; 17635506; 20518781; 22814319; 22909361[PMID]_23356892[PMID]_23621824[PMID]; 24336169; 25622760; 28498512; 30968598; Â 10080178 NCBI_gene_ID : 488 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_170665 Tx_version : 4 Tx_start : 110281246 Tx_end : 110351093 Exon_count : 20 Overlapped_tx_length : 69847 Overlapped_CDS_length : 3129 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110281246 Intersect_end : 110351093 |
0.5615Exomiser_gene_pheno_score : 0.5615 Human_pheno_evidence : Acrokeratosis verruciformis of Hopf; Brachydactyly; Nail dystrophy Mouse_pheno_evidence : Brachydactyly; toenail hyperkeratosis Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.07 |
.RE_gene : . |
12:110281247-110351093; 12:110281791-11028279[...]P_loss_coord : 12:110281247-110351093; 12:110281791-110282795; 12:110292001-110292144 P_loss_source : dbVar:nssv17173016; dbVar:nssv18791999; morbid:ATP2A2 P_loss_phen : Acrokeratosis verruciformis, 101900 (3) AD; Darier disease, 124200 (3) AD P_loss_hpo : . |
25P_snvindel_nb : 25 P_snvindel_phen : Acrokeratosis_verruciformis_of_Hopf; Darier_disease,_acral_hemorrhagic_type; Darier_disease,_segmental; Keratosis_follicularis |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MVKGene_name : MVK; LOEUF_bin : 2 GnomAD_pLI : 1.6679e-01 ExAC_pLI : 4.2161e-02 HI : . TS : . DDD_HI_percent : 64.65 ACMG : . ExAC_cnvZ : -1.14639971187456 ExAC_delZ : -0.775331307231998 ExAC_dupZ : -1.24210676940358 ExAC_synZ : 0.780338429753003 ExAC_misZ : 1.20406389227485 GenCC_disease : disseminated superficial actinic porokeratosis; hyperimmunoglobulinemia D with periodic fever; mevalonic aciduria; porokeratosis 3, disseminated superficial actinic type; porokeratosis of Mibelli GenCC_moi : AD; AR; MT GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 11313769[PMID]_10369262[PMID]; 12634869; 15536479; 16835861; 17105862; 19011501; 19531764; 22246419; 22983302[PMID]_26202976[PMID]; 23834120; 25120591; 26202976; 26202976[PMID]; 26986117; 32822427; NULL NCBI_gene_ID : 4598 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_047428873 Tx_version : 1 Tx_start : 109573271 Tx_end : 109598125 Exon_count : 11 Overlapped_tx_length : 24854 Overlapped_CDS_length : 1491 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109573271 Intersect_end : 109598125 |
0.5800Exomiser_gene_pheno_score : 0.5800 Human_pheno_evidence : Craniosynostosis; Large fontanelles; Mevalonic aciduria Mouse_pheno_evidence : Craniosynostosis; microphthalmia Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.08 |
.RE_gene : . |
12:109573424-109579904; 12:109573794-10959812[...]P_loss_coord : 12:109573424-109579904; 12:109573794-109598125; 12:109575979-109576165; 12:109595009-109596577; 12:109595009-109596597 P_loss_source : dbVar:nssv17171764; dbVar:nssv17968707; dbVar:nssv17972090; dbVar:nssv18789187; morbid:MVK P_loss_phen : Hyper-IgD syndrome, 260920 (3) AR; Mevalonic aciduria, 610377 (3) AR; Porokeratosis 3, multiple types, 175900 (3) AD P_loss_hpo : . |
40P_snvindel_nb : 40 P_snvindel_phen : Autoinflammatory_syndrome; Hyperimmunoglobulin_D_with_periodic_fever; Inborn_genetic_diseases; MVK-Related_Disorders; MVK-related_condition; Methylmalonic_aciduria,_cblB_type; Mevalonic_aciduria; Porokeratosis_3,_disseminated_superficial_actinic_type; See_cases; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GLI1Gene_name : GLI1; LOEUF_bin : 5 GnomAD_pLI : 7.6639e-14 ExAC_pLI : 1.9483e-06 HI : . TS : . DDD_HI_percent : 1.98 ACMG : . ExAC_cnvZ : 0.634749424087504 ExAC_delZ : 0.237568190713965 ExAC_dupZ : 0.689443024253449 ExAC_synZ : 0.100273356642817 ExAC_misZ : 0.304913718218034 GenCC_disease : Ellis-van Creveld syndrome; polydactyly of a biphalangeal thumb; polydactyly, postaxial, type A8; postaxial polydactyly type A GenCC_moi : AD; AR GenCC_classification : Limited; Supportive GenCC_pmid : 28973407[PMID]; 30620395[PMID]; 31549748; 31549748[PMID] NCBI_gene_ID : 2735 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_005269 Tx_version : 3 Tx_start : 57459784 Tx_end : 57472268 Exon_count : 12 Overlapped_tx_length : 12484 Overlapped_CDS_length : 3321 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57459784 Intersect_end : 57472268 |
0.4810Exomiser_gene_pheno_score : 0.4810 Human_pheno_evidence : Brachydactyly; Polydactyly, postaxial, type A8; Postaxial polydactyly Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.11 |
.RE_gene : . |
12:57460277-57472268P_loss_coord : 12:57460277-57472268 P_loss_source : morbid:GLI1 P_loss_phen : Polydactyly, postaxial, type A8, 618123 (3) AR; Polydactyly, preaxial I, 174400 (3) AR P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Polydactyly,_postaxial,_type_A8 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TCTN1Gene_name : TCTN1; LOEUF_bin : 6 GnomAD_pLI : 1.0708e-15 ExAC_pLI : 1.8686e-09 HI : 30 TS : 0 DDD_HI_percent : 75.52 ACMG : . ExAC_cnvZ : 0.204580967017836 ExAC_delZ : 0.248591976975973 ExAC_dupZ : 0.103349206949547 ExAC_synZ : 0.438149842096659 ExAC_misZ : 0.451975903647264 GenCC_disease : Joubert syndrome; Joubert syndrome 13; Meckel syndrome GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 21725307; 21725307[PMID]_20301500[PMID]; 22693042; 249558; 26477546; 27894351; 28631893[PMID] NCBI_gene_ID : 79600 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001082538 Tx_version : 3 Tx_start : 110614128 Tx_end : 110649430 Exon_count : 15 Overlapped_tx_length : 35302 Overlapped_CDS_length : 1779 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110614128 Intersect_end : 110649430 |
0.8056Exomiser_gene_pheno_score : 0.8056 Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Foot polydactyly; Joubert syndrome Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; anophthalmia; polydactyly Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.1 |
.RE_gene : . |
12:110614404-110626361; 12:110626343-11062651[...]P_loss_coord : 12:110614404-110626361; 12:110626343-110626512; 12:110626343-110636521; 12:110626343-110642409; 12:110641950-110645110 P_loss_source : dbVar:nssv16212901; dbVar:nssv17968938; dbVar:nssv18787499; dbVar:nssv18787500; dbVar:nssv18792853 P_loss_phen : . P_loss_hpo : . |
15P_snvindel_nb : 15 P_snvindel_phen : Familial_aplasia_of_the_vermis; Global_developmental_delay; Joubert_syndrome_13; Meckel-Gruber_syndrome; Typical_Joubert_syndrome_MRI_findings |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
APAF1Gene_name : APAF1; LOEUF_bin : 2 GnomAD_pLI : 9.6242e-06 ExAC_pLI : 3.8207e-05 HI : . TS : . DDD_HI_percent : 3.12 ACMG : . ExAC_cnvZ : 1.55133585495829 ExAC_delZ : 0.909127743536381 ExAC_dupZ : 1.5692320875873 ExAC_synZ : -1.06256541416095 ExAC_misZ : 0.978641634777591 GenCC_disease : depressive disorder GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 317 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_181861 Tx_version : 2 Tx_start : 98645289 Tx_end : 98735433 Exon_count : 27 Overlapped_tx_length : 90144 Overlapped_CDS_length : 3747 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98645289 Intersect_end : 98735433 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.8714Exomiser_gene_pheno_score : 0.8714 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal digit morphology; abnormal frontal bone morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DNM1LGene_name : DNM1L; LOEUF_bin : 2 GnomAD_pLI : 5.6753e-04 ExAC_pLI : 1.7695e-01 HI : . TS : . DDD_HI_percent : 4.41 ACMG : . ExAC_cnvZ : 1.37238395113123 ExAC_delZ : 0.719433950000762 ExAC_dupZ : 1.42536049302604 ExAC_synZ : 0.871006768337458 ExAC_misZ : 3.67833495490957 GenCC_disease : Leigh syndrome; autosomal dominant optic atrophy, classic form; encephalopathy due to mitochondrial and peroxisomal fission defect; encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1; optic atrophy 5 GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive GenCC_pmid : 17460227; 17460227[PMID]; 20696759; 26604000; 26825290; 26931468; 26992161; 27145208; 27328748; 28969390; 28969390[PMID]; 30801875; 30850373 NCBI_gene_ID : 10059 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_001278464 Tx_version : 2 Tx_start : 32679300 Tx_end : 32745650 Exon_count : 21 Overlapped_tx_length : 66350 Overlapped_CDS_length : 2250 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 32679300 Intersect_end : 32745650 |
0.4324Exomiser_gene_pheno_score : 0.4324 Human_pheno_evidence : Brachydactyly; Broad hallux; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.12 |
.RE_gene : . |
12:32710958-32745650; 12:32713190-32713391P_loss_coord : 12:32710958-32745650; 12:32713190-32713391 P_loss_source : dbVar:nssv17972710; morbid:DNM1L P_loss_phen : Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3) AR,AD; Optic atrophy 5, 610708 (3) AD P_loss_hpo : . |
16P_snvindel_nb : 16 P_snvindel_phen : Encephalopathy,_lethal,_due_to_defective_mitochondrial_peroxisomal_fission_1; Inborn_genetic_diseases; Obesity; Optic_atrophy_5; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BBS10Gene_name : BBS10; LOEUF_bin : 7 GnomAD_pLI : 1.7467e-12 ExAC_pLI : 6.7825e-09 HI : . TS : . DDD_HI_percent : 59.89 ACMG : . ExAC_cnvZ : -0.00560720888009984 ExAC_delZ : -0.0740983008161578 ExAC_dupZ : -0.0869277677535592 ExAC_synZ : -1.15458324764394 ExAC_misZ : -1.03424910269064 GenCC_disease : Bardet-Biedl syndrome; Bardet-Biedl syndrome 10 GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 16582908; 20177705; 20805367; 23219996[PMID]_23403234[PMID]_20301537[PMID]; 26273430; 26762677; 27659767; 280066 NCBI_gene_ID : 79738 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_024685 Tx_version : 4 Tx_start : 76344473 Tx_end : 76348415 Exon_count : 2 Overlapped_tx_length : 3942 Overlapped_CDS_length : 2172 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76344473 Intersect_end : 76348415 |
0.4802Exomiser_gene_pheno_score : 0.4802 Human_pheno_evidence : Bardet-Biedl syndrome 10; Brachydactyly; Polydactyly Mouse_pheno_evidence : Craniosynostosis; abnormal rod electrophysiology Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Brachydactyly PhenoGenius_score : 0.34 |
.RE_gene : . |
12:76344474-76348415; 12:76345804-76348368P_loss_coord : 12:76344474-76348415; 12:76345804-76348368 P_loss_source : dbVar:nssv16213251; morbid:BBS10 P_loss_phen : Bardet-Biedl syndrome 10, 615987 (3) AR P_loss_hpo : . |
124P_snvindel_nb : 124 P_snvindel_phen : Asphyxiating_thoracic_dystrophy_3; BBS10-related_condition; Bardet-Biedl_syndrome; Bardet-Biedl_syndrome_1; Bardet-Biedl_syndrome_10; Bardet-biedl_syndrome_1/10,_digenic; Bardet-biedl_syndrome_6/10,_digenic; Foot_polydactyly; High-frequency_hearing_impairment; Inborn_genetic_diseases; Intellectual_disability; Macular_degeneration; Postaxial_hand_polydactyly; Retinal_dystrophy; Retinitis_pigmentosa |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HECTD4Gene_name : HECTD4; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 23.9 ACMG : . ExAC_cnvZ : 1.2135095128875 ExAC_delZ : 1.73091917776152 ExAC_dupZ : 0.837108243684782 ExAC_synZ : 1.05389741054816 ExAC_misZ : 6.77284440582208 GenCC_disease : neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 36401616 NCBI_gene_ID : 283450 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001109662 Tx_version : 4 Tx_start : 112160194 Tx_end : 112382431 Exon_count : 76 Overlapped_tx_length : 222237 Overlapped_CDS_length : 13287 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112160194 Intersect_end : 112382431 |
0.4945Exomiser_gene_pheno_score : 0.4945 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Frontal bossing; Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum; Tapered finger Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:112160195-112382431P_loss_coord : 12:112160195-112382431 P_loss_source : morbid:HECTD4 P_loss_phen : Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, 620250 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Neurodevelopmental_disorder_with_seizures,_spasticity,_and_complete_or_partial_agenesis_of_the_corpus_callosum |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ALDH2Gene_name : ALDH2; LOEUF_bin : 6 GnomAD_pLI : 3.3959e-10 ExAC_pLI : 1.7325e-06 HI : . TS : . DDD_HI_percent : 34.74 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.0494808472248952 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.0337977629515114 ExAC_misZ : 1.16736069338417 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 217 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : 5'UTR-3'UTR Tx : NM_000690 Tx_version : 4 Tx_start : 111766932 Tx_end : 111817532 Exon_count : 13 Overlapped_tx_length : 50600 Overlapped_CDS_length : 1554 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111766932 Intersect_end : 111817532 |
100650; OMIM_ID : 100650; OMIM_phenotype : Alcohol sensitivity, acute, 610251 (3) AD; (Esophageal cancer, alcohol-related, susceptibility to) (3); (Hangover, susceptibility to), 610251 (3) AD; (Sublingual nitroglycerin, susceptibility to poor response to) (3); OMIM_inheritance : AD OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.4458Exomiser_gene_pheno_score : 0.4458 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal bone mineralization Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.15 |
.RE_gene : . |
12:111766933-111817532P_loss_coord : 12:111766933-111817532 P_loss_source : morbid:ALDH2 P_loss_phen : Alcohol sensitivity, acute, 610251 (3) AD; Esophageal cancer, alcohol-related, susceptibility to (3); Hangover, susceptibility to, 610251 (3) AD; Sublingual nitroglycerin, susceptibility to poor response to (3) P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NUP107Gene_name : NUP107; LOEUF_bin : 2 GnomAD_pLI : 2.5555e-09 ExAC_pLI : 1.1984e-06 HI : . TS : . DDD_HI_percent : 12.21 ACMG : . ExAC_cnvZ : -0.395870505158345 ExAC_delZ : 0.887552160191089 ExAC_dupZ : -0.953107836355536 ExAC_synZ : 0.421405243368363 ExAC_misZ : 0.975027553594212 GenCC_disease : 46 XX gonadal dysgenesis; Galloway-Mowat syndrome; Galloway-Mowat syndrome 7; familial idiopathic steroid-resistant nephrotic syndrome; nephrotic syndrome, type 11; ovarian dysgenesis 6 GenCC_moi : AD; AR GenCC_classification : Limited; Moderate; Strong; Supportive GenCC_pmid : 242652; 250606; 250664; 250980; 251102; 251334; 25558065; 26411495; 26411495[PMID]; 26485283; 26485283[PMID]; 27190346; 279362; 28135719; 282208; 282440; 28280135; 28280135[PMID]; 29363275; 30179222; 30924587 NCBI_gene_ID : 57122 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_020401 Tx_version : 4 Tx_start : 68686977 Tx_end : 68745809 Exon_count : 28 Overlapped_tx_length : 58832 Overlapped_CDS_length : 2778 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68686977 Intersect_end : 68745809 |
0.5008Exomiser_gene_pheno_score : 0.5008 Human_pheno_evidence : Brachydactyly; Clinodactyly; Galloway-Mowat syndrome 7 Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.09 |
.RE_gene : . |
12:68687067-68702804; 12:68713730-68745809P_loss_coord : 12:68687067-68702804; 12:68713730-68745809 P_loss_source : dbVar:nssv18788740; morbid:NUP107 P_loss_phen : ?Ovarian dysgenesis 6, 618078 (3) AR; Galloway-Mowat syndrome 7, 618348 (3) AR; Nephrotic syndrome, type 11, 616730 (3) AR P_loss_hpo : . |
5P_snvindel_nb : 5 P_snvindel_phen : Early_onset_focal_segmental_glomerulosclerosis; Galloway-Mowat_syndrome_7; Global_developmental_delay; Light_complexion; Nephrotic_syndrome,_type_11 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MAPKAPK5Gene_name : MAPKAPK5; LOEUF_bin : 2 GnomAD_pLI : 3.5435e-01 ExAC_pLI : 2.3423e-02 HI : . TS : . DDD_HI_percent : 17.55 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.745246747566451 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.273639933339741 ExAC_misZ : 1.86871198855392 GenCC_disease : neurocardiofaciodigital syndrome GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 33442026; 36581449 NCBI_gene_ID : 8550 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12-q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001371479 Tx_version : 1 Tx_start : 111842227 Tx_end : 111902222 Exon_count : 16 Overlapped_tx_length : 59995 Overlapped_CDS_length : 1440 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111842227 Intersect_end : 111902222 |
0.4996Exomiser_gene_pheno_score : 0.4996 Human_pheno_evidence : Brachydactyly; Neurocardiofaciodigital syndrome; Polydactyly Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:111842228-111902222P_loss_coord : 12:111842228-111902222 P_loss_source : morbid:MAPKAPK5 P_loss_phen : Neurocardiofaciodigital syndrome, 619869 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Neurocardiofaciodigital_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RNF10Gene_name : RNF10; LOEUF_bin : 1 GnomAD_pLI : 1.6406e-01 ExAC_pLI : 5.0296e-01 HI : . TS : . DDD_HI_percent : 15.46 ACMG : . ExAC_cnvZ : 1.13144739315704 ExAC_delZ : 0.755890664119674 ExAC_dupZ : 1.0857264453953 ExAC_synZ : -0.379412316104977 ExAC_misZ : 0.360257582555686 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9921 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001330474 Tx_version : 2 Tx_start : 120534355 Tx_end : 120577588 Exon_count : 17 Overlapped_tx_length : 43233 Overlapped_CDS_length : 2451 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120534355 Intersect_end : 120577588 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.8212Exomiser_gene_pheno_score : 0.8212 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; microcephaly; syndactyly Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CSGene_name : CS; LOEUF_bin : 1 GnomAD_pLI : 9.8402e-01 ExAC_pLI : 9.9983e-01 HI : . TS : . DDD_HI_percent : 7.67 ACMG : . ExAC_cnvZ : 0.237930578332733 ExAC_delZ : 0.828457137848488 ExAC_dupZ : -0.132908369569379 ExAC_synZ : 2.17158094368447 ExAC_misZ : 3.76806533185326 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1431 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_004077 Tx_version : 3 Tx_start : 56271698 Tx_end : 56300330 Exon_count : 11 Overlapped_tx_length : 28632 Overlapped_CDS_length : 1401 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56271698 Intersect_end : 56300330 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.8137Exomiser_gene_pheno_score : 0.8137 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal digit morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MBD6Gene_name : MBD6; LOEUF_bin : 0 GnomAD_pLI : 9.9937e-01 ExAC_pLI : 9.6366e-01 HI : . TS : . DDD_HI_percent : 33.61 ACMG : . ExAC_cnvZ : 0.143650138509531 ExAC_delZ : 0.728431928759188 ExAC_dupZ : -0.195473285820672 ExAC_synZ : -0.76771572202453 ExAC_misZ : -1.65011430991243 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 114785 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_006719217 Tx_version : 2 Tx_start : 57520714 Tx_end : 57530148 Exon_count : 13 Overlapped_tx_length : 9434 Overlapped_CDS_length : 3015 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57520714 Intersect_end : 57530148 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.8056Exomiser_gene_pheno_score : 0.8056 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; anophthalmia; polydactyly Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SCN8AGene_name : SCN8A; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 5.53 ACMG : . ExAC_cnvZ : 1.55259848649566 ExAC_delZ : 1.41631620296498 ExAC_dupZ : 1.25478978341923 ExAC_synZ : -0.192493127867548 ExAC_misZ : 7.85784487477964 GenCC_disease : benign familial infantile epilepsy; cognitive impairment with or without cerebellar ataxia; complex neurodevelopmental disorder; developmental and epileptic encephalopathy, 13; infantile convulsions and choreoathetosis; myoclonus, familial, 2; seizures, benign familial infantile, 5; undetermined early-onset epileptic encephalopathy GenCC_moi : AD GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 16236810; 19254928; 22365152; 22365152[PMID]_23708187[PMID]; 25239001; 26677014[PMID]; 27210545; 27875746; 28238546; 28923014; 29263050; 30968951; 31402610; 31680123; 32651551 NCBI_gene_ID : 6334 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001330260 Tx_version : 2 Tx_start : 51591232 Tx_end : 51812864 Exon_count : 27 Overlapped_tx_length : 221632 Overlapped_CDS_length : 5943 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51591232 Intersect_end : 51812864 |
600702; OMIM_ID : 600702; OMIM_phenotype : ?Myoclonus, familial, 2, 618364 (3) AD; Cognitive impairment with or without cerebellar ataxia, 614306 (3) AD; Developmental and epileptic encephalopathy 13, 614558 (3) AD; Seizures, benign familial infantile, 5, 617080 (3) AD; OMIM_inheritance : AD OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.3734Exomiser_gene_pheno_score : 0.3734 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye electrophysiology Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Craniosynostosis PhenoGenius_score : 0.26 |
.RE_gene : . |
12:51591233-51812864; 12:51662799-51688869; 1[...]P_loss_coord : 12:51591233-51812864; 12:51662799-51688869; 12:51684155-51701227; 12:51782159-51786734 P_loss_source : dbVar:nssv15144245; dbVar:nssv15771022; dbVar:nssv17976697; morbid:SCN8A P_loss_phen : ?Myoclonus, familial, 2, 618364 (3) AD; Cognitive impairment with or without cerebellar ataxia, 614306 (3) AD; Developmental and epileptic encephalopathy 13, 614558 (3) AD; Seizures, benign familial infantile, 5, 617080 (3) AD P_loss_hpo : . |
90P_snvindel_nb : 90 P_snvindel_phen : COGNITIVE_IMPAIRMENT_WITHOUT_CEREBELLAR_ATAXIA; Cognitive_impairment_with_or_without_cerebellar_ataxia; Developmental_and_epileptic_encephalopathy,_13; Early_infantile_epileptic_encephalopathy_with_suppression_bursts; Epilepsy; Epileptic_encephalopathy; Global_developmental_delay; Inborn_genetic_diseases; Neurodevelopmental_disorder; SCN8A-related_disorder; See_cases; Seizure; Seizures,_benign_familial_infantile,_5; developmental_delay_with_seizures |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GNSGene_name : GNS; LOEUF_bin : 3 GnomAD_pLI : 5.6441e-04 ExAC_pLI : 8.2905e-02 HI : 30 TS : . DDD_HI_percent : 30.08 ACMG : . ExAC_cnvZ : -0.337735357311546 ExAC_delZ : 0.409790176114064 ExAC_dupZ : -0.679490615390371 ExAC_synZ : -0.33534265775009 ExAC_misZ : 1.51643546514957 GenCC_disease : mucopolysaccharidosis type 3D GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 12573255[PMID]_17998446[PMID]; 12624138; 17998446; 19650410; 20232353; 251476; 25851924; 3100754; 6450420 NCBI_gene_ID : 2799 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : NM_002076 Tx_version : 4 Tx_start : 64713448 Tx_end : 64759406 Exon_count : 14 Overlapped_tx_length : 45958 Overlapped_CDS_length : 1659 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64713448 Intersect_end : 64759406 |
0.3998Exomiser_gene_pheno_score : 0.3998 Human_pheno_evidence : Craniosynostosis; Frontal bossing; Mucopolysaccharidosis type IIID Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.12 |
.RE_gene : . |
12:64713449-64759406; 12:64739372-64747928P_loss_coord : 12:64713449-64759406; 12:64739372-64747928 P_loss_source : dbVar:nssv16212003; morbid:GNS P_loss_phen : Mucopolysaccharidosis type IIID, 252940 (3) AR P_loss_hpo : . |
44P_snvindel_nb : 44 P_snvindel_phen : Mucopolysaccharidosis,_MPS-III-D |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT75Gene_name : KRT75; LOEUF_bin : 5 GnomAD_pLI : 4.0410e-08 ExAC_pLI : 5.1356e-07 HI : . TS : . DDD_HI_percent : 36.65 ACMG : . ExAC_cnvZ : 0.62143924892657 ExAC_delZ : 0.700086878822442 ExAC_dupZ : 0.466279896623769 ExAC_synZ : -0.883312851160125 ExAC_misZ : -0.73076601417576 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9119 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_004693 Tx_version : 3 Tx_start : 52424069 Tx_end : 52434371 Exon_count : 9 Overlapped_tx_length : 10302 Overlapped_CDS_length : 1656 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52424069 Intersect_end : 52434371 |
0.6757Exomiser_gene_pheno_score : 0.6757 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal nail morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NR1H4Gene_name : NR1H4; LOEUF_bin : 3 GnomAD_pLI : 9.3892e-04 ExAC_pLI : 1.6170e-01 HI : . TS : . DDD_HI_percent : 11.88 ACMG : . ExAC_cnvZ : 0.651126836084068 ExAC_delZ : 0.81505742903782 ExAC_dupZ : 0.338930785903885 ExAC_synZ : -0.139625923920315 ExAC_misZ : 1.44223310927567 GenCC_disease : cholestasis, progressive familial intrahepatic, 5 GenCC_moi : AR GenCC_classification : Strong GenCC_pmid : 11030617; 17681172; 21633855; 26888176; 30366773 NCBI_gene_ID : 9971 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001206993 Tx_version : 2 Tx_start : 100503359 Tx_end : 100564414 Exon_count : 9 Overlapped_tx_length : 61055 Overlapped_CDS_length : 1461 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100503359 Intersect_end : 100564414 |
0.4801Exomiser_gene_pheno_score : 0.4801 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; decreased bone mineral density; decreased interscapular fat pad weight Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:100503360-100564414P_loss_coord : 12:100503360-100564414 P_loss_source : morbid:NR1H4 P_loss_phen : Cholestasis, progressive familial intrahepatic, 5, 617049 (3) AR P_loss_hpo : . |
4P_snvindel_nb : 4 P_snvindel_phen : Cholestasis,_progressive_familial_intrahepatic,_5; Progressive_familial_intrahepatic_cholestasis_type_1 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GDF11Gene_name : GDF11; LOEUF_bin : 1 GnomAD_pLI : 9.7645e-01 ExAC_pLI : 9.6384e-01 HI : . TS : . DDD_HI_percent : 14.75 ACMG : . ExAC_cnvZ : 0.925564579575346 ExAC_delZ : 0.502157938215522 ExAC_dupZ : 0.809050626506212 ExAC_synZ : 2.77975496416106 ExAC_misZ : 4.41955529675949 GenCC_disease : vertebral hypersegmentation and orofacial anomalies GenCC_moi : AD GenCC_classification : Limited; Strong GenCC_pmid : 26489027; 31215115; 34113007 NCBI_gene_ID : 10220 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_005811 Tx_version : 5 Tx_start : 55743121 Tx_end : 55757264 Exon_count : 3 Overlapped_tx_length : 14143 Overlapped_CDS_length : 1224 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55743121 Intersect_end : 55757264 |
0.6180Exomiser_gene_pheno_score : 0.6180 Human_pheno_evidence : ?Vertebral hypersegmentation and orofacial anomalies; Craniosynostosis; Prominent occiput Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ADAMTS20Gene_name : ADAMTS20; LOEUF_bin : 4 GnomAD_pLI : 4.4534e-38 ExAC_pLI : 4.8537e-26 HI : . TS : . DDD_HI_percent : 68.04 ACMG : . ExAC_cnvZ : 0.978831228045902 ExAC_delZ : 0.822728281044849 ExAC_dupZ : 0.874517657295695 ExAC_synZ : 0.329789237123272 ExAC_misZ : -2.79401797427147 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80070 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : XM_011538754 Tx_version : 3 Tx_start : 43352762 Tx_end : 43552203 Exon_count : 39 Overlapped_tx_length : 199441 Overlapped_CDS_length : 5736 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 43352762 Intersect_end : 43552203 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.8271Exomiser_gene_pheno_score : 0.8271 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; syndactyly Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
WNT10BGene_name : WNT10B; LOEUF_bin : 5 GnomAD_pLI : 3.6160e-04 ExAC_pLI : 3.9981e-03 HI : . TS : . DDD_HI_percent : 7.24 ACMG : . ExAC_cnvZ : 0.688146034961212 ExAC_delZ : 0.0263602873900101 ExAC_dupZ : 0.937776546115973 ExAC_synZ : 1.26808663694089 ExAC_misZ : 1.92376083958065 GenCC_disease : split hand-foot malformation; split hand-foot malformation 6; tooth agenesis; tooth agenesis, selective, 8 GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive GenCC_pmid : 12072797; 18515319; 18515319[PMID]_20635353[PMID]; 20499361; 20635353; 24211389; 24574680; 27321946; 27321946[PMID]; 29364501; 29384555; 31050392 NCBI_gene_ID : 7480 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_003394 Tx_version : 4 Tx_start : 48965339 Tx_end : 48971735 Exon_count : 5 Overlapped_tx_length : 6396 Overlapped_CDS_length : 1170 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48965339 Intersect_end : 48971735 |
0.4946Exomiser_gene_pheno_score : 0.4946 Human_pheno_evidence : Brachydactyly; Isolated split hand-split foot malformation; Oligodactyly Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:48965340-48971735P_loss_coord : 12:48965340-48971735 P_loss_source : morbid:WNT10B P_loss_phen : Split-hand; foot malformation 6, 225300 (3) AR; Tooth agenesis, selective, 8, 617073 (3) AD P_loss_hpo : . |
6P_snvindel_nb : 6 P_snvindel_phen : Split_hand-foot_malformation_6 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LRP1Gene_name : LRP1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 32.46 ACMG : . ExAC_cnvZ : 1.70332713853673 ExAC_delZ : 2.00971959053756 ExAC_dupZ : 1.40709973216266 ExAC_synZ : 3.18591136489726 ExAC_misZ : 10.3449308517202 GenCC_disease : atrophoderma vermiculata; keratosis follicularis spinulosa decalvans; keratosis pilaris atrophicans; schizophrenia GenCC_moi : AD; AR GenCC_classification : Limited; Supportive GenCC_pmid : 21743468; 26039597; 26142438; 26142438[PMID]; 26666178; 31094488 NCBI_gene_ID : 10438 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_002332 Tx_version : 3 Tx_start : 57128482 Tx_end : 57213361 Exon_count : 89 Overlapped_tx_length : 84879 Overlapped_CDS_length : 13635 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57128482 Intersect_end : 57213361 |
0.4408Exomiser_gene_pheno_score : 0.4408 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal limb bud morphology; microphthalmia Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:57128483-57213361P_loss_coord : 12:57128483-57213361 P_loss_source : morbid:LRP1 P_loss_phen : ?Keratosis pilaris atrophicans, 604093 (3) AR; Developmental dysplasia of the hip 3, 620690 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CNTN1Gene_name : CNTN1; LOEUF_bin : 1 GnomAD_pLI : 1.5131e-01 ExAC_pLI : 9.9999e-01 HI : 30 TS : . DDD_HI_percent : 22.29 ACMG : . ExAC_cnvZ : 1.80216869612402 ExAC_delZ : 1.72817430851305 ExAC_dupZ : 1.42510177725249 ExAC_synZ : 0.0868415678993154 ExAC_misZ : 1.45882853922431 GenCC_disease : Compton-North congenital myopathy; schizophrenia GenCC_moi : AR GenCC_classification : Moderate; No Known Disease Relationship; Strong; Supportive GenCC_pmid : 19026398; 19026398[PMID]; 22242131 NCBI_gene_ID : 1272 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001843 Tx_version : 4 Tx_start : 40692438 Tx_end : 41072415 Exon_count : 24 Overlapped_tx_length : 379977 Overlapped_CDS_length : 3057 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40692438 Intersect_end : 41072415 |
0.6072Exomiser_gene_pheno_score : 0.6072 Human_pheno_evidence : ?Congenital myopathy 12; Brachydactyly; Craniosynostosis; Dolichocephaly; Overlapping fingers Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
11P_snvindel_nb : 11 P_snvindel_phen : Compton-North_congenital_myopathy |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NOS1Gene_name : NOS1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9869e-01 HI : . TS : . DDD_HI_percent : 13.75 ACMG : . ExAC_cnvZ : 0.552643201742198 ExAC_delZ : 1.34958119833707 ExAC_dupZ : 0.0800944128723759 ExAC_synZ : -0.22463020123879 ExAC_misZ : 4.13531474037673 GenCC_disease : idiopathic achalasia GenCC_moi : AR GenCC_classification : Supportive GenCC_pmid : 25479138[PMID] NCBI_gene_ID : 340719 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : 5'UTR-3'UTR Tx : NM_001204218 Tx_version : 2 Tx_start : 117208141 Tx_end : 117361626 Exon_count : 30 Overlapped_tx_length : 153485 Overlapped_CDS_length : 4407 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 117208141 Intersect_end : 117361626 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : yes OMIM_morbid_candidate : . |
0.4304Exomiser_gene_pheno_score : 0.4304 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:117208142-117361626P_loss_coord : 12:117208142-117361626 P_loss_source : morbid:NOS1 P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MYBPC1Gene_name : MYBPC1; LOEUF_bin : 2 GnomAD_pLI : 4.8350e-05 ExAC_pLI : 6.5793e-01 HI : . TS : . DDD_HI_percent : 22.03 ACMG : . ExAC_cnvZ : 0.881669374163963 ExAC_delZ : 0.952587966924472 ExAC_dupZ : 0.669052230751086 ExAC_synZ : -0.344712763133584 ExAC_misZ : 1.44992988152507 GenCC_disease : arthrogryposis, distal, type 1B; digitotalar dysmorphism; lethal congenital contracture syndrome 3; lethal congenital contracture syndrome 4; myopathy, congenital, with tremor GenCC_moi : AD; AR GenCC_classification : Limited; Moderate; Strong; Supportive GenCC_pmid : 20045868; 20045868[PMID]; 22610851; 22610851[PMID]; 23657818; 23873045; 25679999; 26661508; 31025394; 31264822 NCBI_gene_ID : 4604 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : XM_006719405 Tx_version : 5 Tx_start : 101594970 Tx_end : 101686028 Exon_count : 31 Overlapped_tx_length : 91058 Overlapped_CDS_length : 3588 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101594970 Intersect_end : 101686028 |
0.4474Exomiser_gene_pheno_score : 0.4474 Human_pheno_evidence : Adducted thumb; Brachydactyly; Distal arthrogryposis type 1 Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.07 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Inborn_genetic_diseases; MYBPC1-related_condition; Myopathy,_congenital,_with_tremor |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KITLGGene_name : KITLG; LOEUF_bin : 1 GnomAD_pLI : 8.5024e-01 ExAC_pLI : 5.0853e-01 HI : . TS : . DDD_HI_percent : 0.47 ACMG : . ExAC_cnvZ : 0.866564352882328 ExAC_delZ : 0.738749527801199 ExAC_dupZ : 0.628832965893552 ExAC_synZ : -0.159604678204073 ExAC_misZ : 0.0923656117387558 GenCC_disease : Waardenburg syndrome type 2; Waardenburg syndrome, IIa 2F; autosomal dominant nonsyndromic hearing loss; autosomal dominant nonsyndromic hearing loss 69; familial progressive hyper- and hypopigmentation; familial progressive hyperpigmentation; nonsyndromic genetic hearing loss GenCC_moi : AD GenCC_classification : Limited; Moderate; Strong; Supportive GenCC_pmid : 1280558; 19375057[PMID]; 21368769[PMID]; 26522471; 26522471[PMID]; 28504826 NCBI_gene_ID : 4254 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : 5'UTR-3'UTR Tx : NM_000899 Tx_version : 5 Tx_start : 88492792 Tx_end : 88580471 Exon_count : 10 Overlapped_tx_length : 87679 Overlapped_CDS_length : 822 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88492792 Intersect_end : 88580471 |
184745; OMIM_ID : 184745; OMIM_phenotype : Deafness, AD 69, unilateral or asymmetric, 616697 (3) AD; Hyperpigmentation with or without hypopigmentation, 145250 (3) AD; Waardenburg syndrome, type 2F, 619947 (3) AR; [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3); OMIM_inheritance : AD; AR OMIM_morbid : yes OMIM_morbid_candidate : . |
0.4309Exomiser_gene_pheno_score : 0.4309 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.05 |
.RE_gene : . |
12:88492793-88580471P_loss_coord : 12:88492793-88580471 P_loss_source : morbid:KITLG P_loss_phen : Deafness, AD 69, unilateral or asymmetric, 616697 (3) AD; Hyperpigmentation with or without hypopigmentation, 145250 (3) AD; Waardenburg syndrome, type 2F, 619947 (3) AR; Skin; hair; eye pigmentation 7, blond; brown hair, 611664 (3) P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCDC65Gene_name : CCDC65; LOEUF_bin : 6 GnomAD_pLI : 5.7685e-11 ExAC_pLI : 9.5969e-07 HI : . TS : . DDD_HI_percent : 52.33 ACMG : . ExAC_cnvZ : 0.0237570092968499 ExAC_delZ : 0.472689097004459 ExAC_dupZ : -0.217519824314882 ExAC_synZ : 0.640309445729781 ExAC_misZ : -0.701739603288276 GenCC_disease : primary ciliary dyskinesia; primary ciliary dyskinesia 27 GenCC_moi : AD; AR GenCC_classification : Strong; Supportive GenCC_pmid : 23991085; 24094744; 24094744[PMID] NCBI_gene_ID : 85478 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_033124 Tx_version : 5 Tx_start : 48904132 Tx_end : 48921576 Exon_count : 8 Overlapped_tx_length : 17444 Overlapped_CDS_length : 1455 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48904132 Intersect_end : 48921576 |
0.4802Exomiser_gene_pheno_score : 0.4802 Human_pheno_evidence : Brachydactyly; Clubbing; Primary ciliary dyskinesia Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:48904133-48921576P_loss_coord : 12:48904133-48921576 P_loss_source : morbid:CCDC65 P_loss_phen : Ciliary dyskinesia, primary, 27, 615504 (3) AR P_loss_hpo : . |
9P_snvindel_nb : 9 P_snvindel_phen : Anomalous_origin_of_coronary_artery_from_the_pulmonary_artery; Clinodactyly_of_the_5th_finger; Cough; Primary_ciliary_dyskinesia; Primary_ciliary_dyskinesia_27 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ADCY6Gene_name : ADCY6; LOEUF_bin : 2 GnomAD_pLI : 5.8268e-03 ExAC_pLI : 5.9668e-01 HI : . TS : . DDD_HI_percent : 18.58 ACMG : . ExAC_cnvZ : 1.08305594250082 ExAC_delZ : 0.919367584451964 ExAC_dupZ : 0.855180760846721 ExAC_synZ : 1.01341477105992 ExAC_misZ : 3.55823502099606 GenCC_disease : hypomyelination neuropathy-arthrogryposis syndrome; lethal congenital contracture syndrome 8 GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 24319099; 24319099[PMID]; 26257172 NCBI_gene_ID : 112 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001412819 Tx_version : 1 Tx_start : 48766193 Tx_end : 48789974 Exon_count : 22 Overlapped_tx_length : 23781 Overlapped_CDS_length : 3507 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48766193 Intersect_end : 48789974 |
0.4295Exomiser_gene_pheno_score : 0.4295 Human_pheno_evidence : Brachydactyly; Hammertoe; Lethal congenital contracture syndrome 8 Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:48766194-48789974P_loss_coord : 12:48766194-48789974 P_loss_source : morbid:ADCY6 P_loss_phen : Lethal congenital contracture syndrome 8, 616287 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SHMT2Gene_name : SHMT2; LOEUF_bin : 4 GnomAD_pLI : 7.8195e-08 ExAC_pLI : 7.4875e-03 HI : . TS : . DDD_HI_percent : 22.5 ACMG : . ExAC_cnvZ : 0.966728501530211 ExAC_delZ : 0.2832702330587 ExAC_dupZ : 1.11781720299715 ExAC_synZ : -0.124435419043602 ExAC_misZ : 2.09886477524955 GenCC_disease : complex neurodevelopmental disorder; neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 33015733 NCBI_gene_ID : 6472 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_005412 Tx_version : 6 Tx_start : 57229710 Tx_end : 57234935 Exon_count : 12 Overlapped_tx_length : 5225 Overlapped_CDS_length : 1515 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57229710 Intersect_end : 57234935 |
0.4526Exomiser_gene_pheno_score : 0.4526 Human_pheno_evidence : Adducted thumb; Brachydactyly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Mouse_pheno_evidence : Craniosynostosis; increased cornea thickness Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:57231475-57234935P_loss_coord : 12:57231475-57234935 P_loss_source : morbid:SHMT2 P_loss_phen : Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, 619121 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NABP2Gene_name : NABP2; LOEUF_bin : 1 GnomAD_pLI : 9.7257e-01 ExAC_pLI : 9.5680e-01 HI : . TS : . DDD_HI_percent : 41.31 ACMG : . ExAC_cnvZ : 0.987627190221618 ExAC_delZ : 0.855733256839947 ExAC_dupZ : 0.743974561534051 ExAC_synZ : 0.204669979417114 ExAC_misZ : 1.71516220956261 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79035 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_047429531 Tx_version : 1 Tx_start : 56224452 Tx_end : 56229854 Exon_count : 6 Overlapped_tx_length : 5402 Overlapped_CDS_length : 711 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56224452 Intersect_end : 56229854 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.7530Exomiser_gene_pheno_score : 0.7530 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal cranium morphology; hindlimb oligodactyly Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NCKAP1LGene_name : NCKAP1L; LOEUF_bin : 1 GnomAD_pLI : 8.5489e-01 ExAC_pLI : 9.9044e-01 HI : . TS : . DDD_HI_percent : 22.76 ACMG : . ExAC_cnvZ : 0.219338372529298 ExAC_delZ : 0.80545357244847 ExAC_dupZ : -0.156447492318536 ExAC_synZ : -0.796811965652811 ExAC_misZ : 2.18362578488053 GenCC_disease : immunodeficiency 72 with autoinflammation GenCC_moi : AR GenCC_classification : Strong GenCC_pmid : 19015308; 32647003; 32766723 NCBI_gene_ID : 3071 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13-q13.2 Location2 : 5'UTR-3'UTR Tx : NM_005337 Tx_version : 5 Tx_start : 54497751 Tx_end : 54548243 Exon_count : 31 Overlapped_tx_length : 50492 Overlapped_CDS_length : 3384 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54497751 Intersect_end : 54548243 |
0.4133Exomiser_gene_pheno_score : 0.4133 Human_pheno_evidence : Brachydactyly; Clubbing of fingers; Immunodeficiency 72 with autoinflammation Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:54498778-54548243P_loss_coord : 12:54498778-54548243 P_loss_source : morbid:NCKAP1L P_loss_phen : Immunodeficiency 72 with autoinflammation, 618982 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT2Gene_name : KRT2; LOEUF_bin : 3 GnomAD_pLI : 1.2882e-03 ExAC_pLI : 6.7350e-02 HI : . TS : . DDD_HI_percent : 73.78 ACMG : . ExAC_cnvZ : 1.40584252768792 ExAC_delZ : 1.05789828885107 ExAC_dupZ : 1.3362884188543 ExAC_synZ : -1.9859294658642 ExAC_misZ : -0.744426996446 GenCC_disease : superficial epidermolytic ichthyosis GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 10084318; 10620137; 15949009[PMID]; 22612346; 26581228; 33081034; 34779035; 7524919; 8077693; 9204966; 9804344 NCBI_gene_ID : 3849 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_000423 Tx_version : 3 Tx_start : 52644557 Tx_end : 52652211 Exon_count : 9 Overlapped_tx_length : 7654 Overlapped_CDS_length : 1920 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52644557 Intersect_end : 52652211 |
0.4304Exomiser_gene_pheno_score : 0.4304 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; increased foot pad pigmentation Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:52644558-52652211P_loss_coord : 12:52644558-52652211 P_loss_source : morbid:KRT2 P_loss_phen : Ichthyosis bullosa of Siemens, 146800 (3) AD P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Exfoliative_ichthyosis; Ichthyosis_bullosa_of_Siemens |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT6AGene_name : KRT6A; LOEUF_bin : 4 GnomAD_pLI : 7.0326e-05 ExAC_pLI : 9.4876e-01 HI : . TS : . DDD_HI_percent : 53.15 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.596234408375896 ExAC_misZ : 2.14327302311541 GenCC_disease : pachyonychia congenita; pachyonychia congenita 3 GenCC_moi : AD GenCC_classification : Strong; Supportive GenCC_pmid : 10953016; 16250206; 17914454; 20301457[PMID]; 21326300; 24611874 NCBI_gene_ID : 3853 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_005554 Tx_version : 4 Tx_start : 52487175 Tx_end : 52493257 Exon_count : 9 Overlapped_tx_length : 6082 Overlapped_CDS_length : 1695 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52487175 Intersect_end : 52493257 |
0.4273Exomiser_gene_pheno_score : 0.4273 Human_pheno_evidence : Brachydactyly; Nail dystrophy; Pachyonychia congenita Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:52487176-52493257P_loss_coord : 12:52487176-52493257 P_loss_source : morbid:KRT6A P_loss_phen : Pachyonychia congenita 3, 615726 (3) AD P_loss_hpo : . |
14P_snvindel_nb : 14 P_snvindel_phen : Pachyonychia_congenita_3 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ERBB3Gene_name : ERBB3; LOEUF_bin : 3 GnomAD_pLI : 1.7003e-15 ExAC_pLI : 4.3583e-06 HI : . TS : . DDD_HI_percent : 1.7 ACMG : . ExAC_cnvZ : -1.51459794760812 ExAC_delZ : 0.645283082867325 ExAC_dupZ : -2.32822120691811 ExAC_synZ : 0.0275821946542895 ExAC_misZ : 1.82395272123992 GenCC_disease : Hirschsprung disease; lethal congenital contracture syndrome 2 GenCC_moi : AD; AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 12548738; 17701904; 17701904[PMID]; 28454995; 33497358[PMID]; 9338783 NCBI_gene_ID : 2065 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001982 Tx_version : 4 Tx_start : 56080164 Tx_end : 56103505 Exon_count : 28 Overlapped_tx_length : 23341 Overlapped_CDS_length : 4029 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56080164 Intersect_end : 56103505 |
0.4212Exomiser_gene_pheno_score : 0.4212 Human_pheno_evidence : Adducted thumb; Brachydactyly; Hirschsprung disease Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:56083314-56103505P_loss_coord : 12:56083314-56103505 P_loss_source : morbid:ERBB3 P_loss_phen : ?Lethal congenital contractural syndrome 2, 607598 (3) AR; Visceral neuropathy, familial, 1, AR, 243180 (3) AR; ?Erythroleukemia, familial, susceptibility to, 133180 (3) AD P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Visceral_neuropathy,_familial,_1,_autosomal_recessive |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT85Gene_name : KRT85; LOEUF_bin : 4 GnomAD_pLI : 3.1183e-06 ExAC_pLI : 1.1091e-03 HI : . TS : . DDD_HI_percent : 57.19 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -0.143997894450014 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.679859687413442 ExAC_misZ : 1.02912039021793 GenCC_disease : ectodermal dysplasia 4, hair/nail type; pure hair and nail ectodermal dysplasia GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 16525032; 16525032[PMID]; 19865094; 31273852; 52754711 NCBI_gene_ID : 3891 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_002283 Tx_version : 4 Tx_start : 52360005 Tx_end : 52367481 Exon_count : 9 Overlapped_tx_length : 7476 Overlapped_CDS_length : 1524 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52360005 Intersect_end : 52367481 |
0.4222Exomiser_gene_pheno_score : 0.4222 Human_pheno_evidence : Brachydactyly; Ectodermal dysplasia 4, hair/nail type; Nail dystrophy Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:52360006-52367481P_loss_coord : 12:52360006-52367481 P_loss_source : morbid:KRT85 P_loss_phen : Ectodermal dysplasia 4, hair; nail type, 602032 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DDX11Gene_name : DDX11; LOEUF_bin : 5 GnomAD_pLI : 2.3461e-21 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 79.21 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : Warsaw breakage syndrome GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 17611414; 20137776; 23033317; 23033317[PMID]_20137776[PMID]; 25701697; 26089203; 32855419 NCBI_gene_ID : 1663 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : XM_017018919 Tx_version : 3 Tx_start : 31074264 Tx_end : 31104799 Exon_count : 28 Overlapped_tx_length : 30535 Overlapped_CDS_length : 3276 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31074264 Intersect_end : 31104799 |
0.4237Exomiser_gene_pheno_score : 0.4237 Human_pheno_evidence : 2-3 toe syndactyly; Brachydactyly; Warsaw breakage syndrome Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:31086226-31104799P_loss_coord : 12:31086226-31104799 P_loss_source : morbid:DDX11 P_loss_phen : Warsaw breakage syndrome, 613398 (3) AR P_loss_hpo : . |
10P_snvindel_nb : 10 P_snvindel_phen : Inborn_genetic_diseases; Warsaw_breakage_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC17A8Gene_name : SLC17A8; LOEUF_bin : 3 GnomAD_pLI : 1.3196e-03 ExAC_pLI : 4.4926e-02 HI : 1 TS : 0 DDD_HI_percent : 31.37 ACMG : . ExAC_cnvZ : 0.732311964808016 ExAC_delZ : 1.1361287572183 ExAC_dupZ : 0.333261411543235 ExAC_synZ : 0.587181548298027 ExAC_misZ : 0.150176473168591 GenCC_disease : autosomal dominant nonsyndromic hearing loss; autosomal dominant nonsyndromic hearing loss 25; nonsyndromic genetic hearing loss GenCC_moi : AD GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 11115382; 18215623; 18674745; 20301607[PMID]; 23967202; 24082139; 26797701; 26969326; 27068579; 27610647; 28647561; 33724713; 34145196; 34440452; 34783032 NCBI_gene_ID : 246213 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_139319 Tx_version : 3 Tx_start : 100357073 Tx_end : 100422055 Exon_count : 12 Overlapped_tx_length : 64982 Overlapped_CDS_length : 1770 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100357073 Intersect_end : 100422055 |
0.4000Exomiser_gene_pheno_score : 0.4000 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.06 |
.RE_gene : . |
12:100357074-100422055P_loss_coord : 12:100357074-100422055 P_loss_source : morbid:SLC17A8 P_loss_phen : Deafness, AD 25, 605583 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SDR9C7Gene_name : SDR9C7; LOEUF_bin : 4 GnomAD_pLI : 1.2329e-02 ExAC_pLI : 1.3529e-02 HI : . TS : . DDD_HI_percent : 62.03 ACMG : . ExAC_cnvZ : 1.00815826294726 ExAC_delZ : 0.556904438982879 ExAC_dupZ : 0.875853954312422 ExAC_synZ : -0.238918632805079 ExAC_misZ : -0.231706819017131 GenCC_disease : ichthyosis, congenital, autosomal recessive 13; lamellar ichthyosis GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 28112794; 28173123; 28369735; 28906551; 28906551[PMID]_28369735[PMID]; 31671075 NCBI_gene_ID : 121214 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_148897 Tx_version : 3 Tx_start : 56923132 Tx_end : 56934408 Exon_count : 4 Overlapped_tx_length : 11276 Overlapped_CDS_length : 942 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56923132 Intersect_end : 56934408 |
0.3981Exomiser_gene_pheno_score : 0.3981 Human_pheno_evidence : Abnormality of the nail; Brachydactyly; Lamellar ichthyosis Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:56923133-56934408P_loss_coord : 12:56923133-56934408 P_loss_source : morbid:SDR9C7 P_loss_phen : Ichthyosis, congenital, AR 13, 617574 (3) AR P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Congenital_ichthyosis_of_skin; Ichthyosis,_congenital,_autosomal_recessive_13; SDR9C7-related_condition |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC39A5Gene_name : SLC39A5; LOEUF_bin : 6 GnomAD_pLI : 7.3793e-11 ExAC_pLI : 1.2074e-07 HI : . TS : . DDD_HI_percent : 58.2 ACMG : . ExAC_cnvZ : -1.27963487546893 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.664672778955163 ExAC_synZ : -0.194807621787331 ExAC_misZ : -0.47329589861205 GenCC_disease : myopia 24, autosomal dominant GenCC_moi : AD GenCC_classification : Limited; Strong GenCC_pmid : 24303081; 24891338; 25525168; 28442722; 31560770; 32215939 NCBI_gene_ID : 283375 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_173596 Tx_version : 3 Tx_start : 56230050 Tx_end : 56237846 Exon_count : 13 Overlapped_tx_length : 7796 Overlapped_CDS_length : 1623 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56230050 Intersect_end : 56237846 |
0.4187Exomiser_gene_pheno_score : 0.4187 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:56230717-56237846P_loss_coord : 12:56230717-56237846 P_loss_source : morbid:SLC39A5 P_loss_phen : Myopia 24, AD, 615946 (3) AD P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OAS1Gene_name : OAS1; LOEUF_bin : 5 GnomAD_pLI : 3.4489e-05 ExAC_pLI : 1.2392e-03 HI : . TS : . DDD_HI_percent : 88.34 ACMG : . ExAC_cnvZ : -2.30444519794355 ExAC_delZ : 0.200841549999137 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.538673882879235 ExAC_misZ : -0.938592752826804 GenCC_disease : pulmonary alveolar proteinosis with hypogammaglobulinemia GenCC_moi : AD GenCC_classification : Strong GenCC_pmid : 29455859; 34145065; 34647697 NCBI_gene_ID : 4938 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001032409 Tx_version : 3 Tx_start : 112906961 Tx_end : 112919903 Exon_count : 6 Overlapped_tx_length : 12942 Overlapped_CDS_length : 1245 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112906961 Intersect_end : 112919903 |
0.4092Exomiser_gene_pheno_score : 0.4092 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:112905794-112947514 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AQP5Gene_name : AQP5; LOEUF_bin : 5 GnomAD_pLI : 5.3249e-02 ExAC_pLI : 4.3855e-03 HI : . TS : . DDD_HI_percent : 55.37 ACMG : . ExAC_cnvZ : 0.932623589410049 ExAC_delZ : 0.80472664415933 ExAC_dupZ : 0.744340660337483 ExAC_synZ : 1.00776907383535 ExAC_misZ : 0.946447113998736 GenCC_disease : nonepidermolytic palmoplantar keratoderma; palmoplantar keratoderma, Bothnian type GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 23830519; 23830519[PMID]; 2386789; 23867895; 275998; 277194 NCBI_gene_ID : 362 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001651 Tx_version : 4 Tx_start : 49961871 Tx_end : 49965682 Exon_count : 4 Overlapped_tx_length : 3811 Overlapped_CDS_length : 798 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49961871 Intersect_end : 49965682 |
0.4080Exomiser_gene_pheno_score : 0.4080 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; dry eyes Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:49961872-49965682P_loss_coord : 12:49961872-49965682 P_loss_source : morbid:AQP5 P_loss_phen : Palmoplantar keratoderma, Bothnian type, 600231 (3) AD P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Palmoplantar_keratoderma,_Bothnian_type |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT6BGene_name : KRT6B; LOEUF_bin : 7 GnomAD_pLI : 5.5245e-10 ExAC_pLI : 4.7927e-03 HI : . TS : . DDD_HI_percent : 81.16 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 2.63708328230734 ExAC_misZ : 2.27158644105576 GenCC_disease : pachyonychia congenita; pachyonychia congenita 4 GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 16250206; 20301457[PMID]; 24611874; 9618173 NCBI_gene_ID : 3854 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_005555 Tx_version : 4 Tx_start : 52446650 Tx_end : 52452146 Exon_count : 9 Overlapped_tx_length : 5496 Overlapped_CDS_length : 1695 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52446650 Intersect_end : 52452146 |
0.4273Exomiser_gene_pheno_score : 0.4273 Human_pheno_evidence : Brachydactyly; Nail dystrophy; Pachyonychia congenita Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:52446651-52452146P_loss_coord : 12:52446651-52452146 P_loss_source : morbid:KRT6B P_loss_phen : Pachyonychia congenita 4, 615728 (3) AD P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Pachyonychia_congenita_4 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT86Gene_name : KRT86; LOEUF_bin : 6 GnomAD_pLI : 3.6139e-07 ExAC_pLI : 3.6397e-05 HI : . TS : . DDD_HI_percent : 31.06 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.67153770329782 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 2.22496753502903 ExAC_misZ : 1.5711898900915 GenCC_disease : monilethrix GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 10504448; 15050877; 25557232; 25809918; 28299823; 9241275; 9241275[PMID]_22670615[PMID]; 9402962; 94402962; 9665406 NCBI_gene_ID : 3892 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_005268866 Tx_version : 5 Tx_start : 52274644 Tx_end : 52309163 Exon_count : 11 Overlapped_tx_length : 34519 Overlapped_CDS_length : 1692 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52274644 Intersect_end : 52309163 |
0.4123Exomiser_gene_pheno_score : 0.4123 Human_pheno_evidence : Brachydactyly; Monilethrix; Nail dysplasia Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:52274645-52309163; 12:52285913-52308624P_loss_coord : 12:52274645-52309163; 12:52285913-52308624 P_loss_source : morbid:KRT81; morbid:KRT86 P_loss_phen : Monilethrix, 158000 (3) AD P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Beaded_hair |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ANAPC7Gene_name : ANAPC7; LOEUF_bin : 1 GnomAD_pLI : 8.4850e-01 ExAC_pLI : 9.9926e-01 HI : . TS : . DDD_HI_percent : 19.68 ACMG : . ExAC_cnvZ : 0.210343113641007 ExAC_delZ : 0.0194122570223471 ExAC_dupZ : 0.245018187129747 ExAC_synZ : 1.32573863637209 ExAC_misZ : 2.72597504973508 GenCC_disease : Ferguson-Bonni neurodevelopmental syndrome GenCC_moi : AR GenCC_classification : Strong GenCC_pmid : 34942119 NCBI_gene_ID : 51434 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001385208 Tx_version : 1 Tx_start : 110372899 Tx_end : 110401949 Exon_count : 11 Overlapped_tx_length : 29050 Overlapped_CDS_length : 1740 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110372899 Intersect_end : 110401949 |
0.3568Exomiser_gene_pheno_score : 0.3568 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal bone structure Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:110383050-110391101P_loss_coord : 12:110383050-110391101 P_loss_source : dbVar:nssv17955914 P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT83Gene_name : KRT83; LOEUF_bin : 7 GnomAD_pLI : 3.3665e-14 ExAC_pLI : 1.7040e-10 HI : . TS : . DDD_HI_percent : 56.25 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 1.07439383422373 ExAC_misZ : -1.09653210353664 GenCC_disease : erythrokeratodermia variabilis; monilethrix GenCC_moi : AD GenCC_classification : Strong; Supportive GenCC_pmid : 15744029; 15744029[PMID]; 25557232; 27965375[PMID] NCBI_gene_ID : 3889 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_002282 Tx_version : 3 Tx_start : 52314300 Tx_end : 52321398 Exon_count : 9 Overlapped_tx_length : 7098 Overlapped_CDS_length : 1482 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52314300 Intersect_end : 52321398 |
0.4123Exomiser_gene_pheno_score : 0.4123 Human_pheno_evidence : Brachydactyly; Monilethrix; Nail dysplasia Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:52314301-52321398P_loss_coord : 12:52314301-52321398 P_loss_source : morbid:KRT83 P_loss_phen : Erythrokeratodermia variabilis et progressiva 5, 617756 (3) AR; Monilethrix, 158000 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DCNGene_name : DCN; LOEUF_bin : 2 GnomAD_pLI : 3.1231e-01 ExAC_pLI : 4.5757e-01 HI : . TS : . DDD_HI_percent : 2.89 ACMG : . ExAC_cnvZ : 0.641669212656456 ExAC_delZ : 0.790958530128413 ExAC_dupZ : 0.345204132845437 ExAC_synZ : -0.248673048989041 ExAC_misZ : 0.804128317012178 GenCC_disease : congenital stromal corneal dystrophy GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 11805522; 15671264; 15671264[PMID]_20301741[PMID]; 16935612; 19337156; 21893019; 21993463; 22870031; 24413633; 27366696 NCBI_gene_ID : 1634 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_001920 Tx_version : 5 Tx_start : 91140483 Tx_end : 91182817 Exon_count : 8 Overlapped_tx_length : 42334 Overlapped_CDS_length : 1080 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91140483 Intersect_end : 91182817 |
0.3569Exomiser_gene_pheno_score : 0.3569 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal periodontal ligament morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:91143277-91178646P_loss_coord : 12:91143277-91178646 P_loss_source : morbid:DCN P_loss_phen : Corneal dystrophy, congenital stromal, 610048 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC8Gene_name : HOXC8; LOEUF_bin : 3 GnomAD_pLI : 1.6950e-01 ExAC_pLI : 3.9236e-01 HI : . TS : . DDD_HI_percent : 4.72 ACMG : . ExAC_cnvZ : 0.494400993431236 ExAC_delZ : 0.62898672896133 ExAC_dupZ : 0.318965984162638 ExAC_synZ : 0.162000383282582 ExAC_misZ : 1.38656317055821 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3224 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_022658 Tx_version : 4 Tx_start : 54008984 Tx_end : 54012769 Exon_count : 2 Overlapped_tx_length : 3785 Overlapped_CDS_length : 729 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54008984 Intersect_end : 54012769 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.7059Exomiser_gene_pheno_score : 0.7059 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology; camptodactyly Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:38725; esv2672088B_loss_source : DDD:38725; esv2672088 B_loss_coord : 12:54008062-54019908; 12:54008218-54019716 B_loss_AFmax : 0.0333 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KCTD10Gene_name : KCTD10; LOEUF_bin : 1 GnomAD_pLI : 8.6253e-01 ExAC_pLI : 1.7267e-01 HI : . TS : . DDD_HI_percent : 48.88 ACMG : . ExAC_cnvZ : 0.968512970377162 ExAC_delZ : 0.500127465567267 ExAC_dupZ : 0.844810145868917 ExAC_synZ : -0.544368847038175 ExAC_misZ : 2.77806181555764 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 83892 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001317395 Tx_version : 2 Tx_start : 109448654 Tx_end : 109477300 Exon_count : 7 Overlapped_tx_length : 28646 Overlapped_CDS_length : 945 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109448654 Intersect_end : 109477300 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6860Exomiser_gene_pheno_score : 0.6860 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal joint morphology; abnormal radius morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT4Gene_name : KRT4; LOEUF_bin : 5 GnomAD_pLI : 5.4962e-10 ExAC_pLI : 5.6604e-04 HI : . TS : . DDD_HI_percent : 52.19 ACMG : . ExAC_cnvZ : 0.663619511120594 ExAC_delZ : -0.195624956843002 ExAC_dupZ : 1.08117041390345 ExAC_synZ : -0.469166697465391 ExAC_misZ : -0.130045292500749 GenCC_disease : hereditary mucosal leukokeratosis; white sponge nevus 1 GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 10652003; 10652003[PMID]_12828738[PMID]_23182699[PMID]; 12828738; 18992023; 29738605; 7493030 NCBI_gene_ID : 3851 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_002272 Tx_version : 4 Tx_start : 52806548 Tx_end : 52814116 Exon_count : 9 Overlapped_tx_length : 7568 Overlapped_CDS_length : 1563 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52806548 Intersect_end : 52814116 |
0.3880Exomiser_gene_pheno_score : 0.3880 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal corneal epithelium morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:52806549-52814116P_loss_coord : 12:52806549-52814116 P_loss_source : morbid:KRT4 P_loss_phen : White sponge nevus 1, 193900 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CDK4Gene_name : CDK4; LOEUF_bin : 3 GnomAD_pLI : 6.2909e-02 ExAC_pLI : 9.3202e-01 HI : 0 TS : 0 DDD_HI_percent : 1.03 ACMG : . ExAC_cnvZ : -1.45790218029878 ExAC_delZ : -2.19154112723563 ExAC_dupZ : -1.14938192285703 ExAC_synZ : -0.336883415743505 ExAC_misZ : 2.04431621072352 GenCC_disease : malignant pancreatic neoplasm; melanoma, cutaneous malignant, susceptibility to, 3 GenCC_moi : AD GenCC_classification : Definitive; Moderate; Strong GenCC_pmid : 11828258; 12406321; 15241418; 15880589; 15951821; 17047042; 19585149; 23384855; 30558719; 30775140; 33077847; 7652577; 8528263; 9425228 NCBI_gene_ID : 1019 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_000075 Tx_version : 4 Tx_start : 57747726 Tx_end : 57752310 Exon_count : 8 Overlapped_tx_length : 4584 Overlapped_CDS_length : 912 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57747726 Intersect_end : 57752310 |
0.4111Exomiser_gene_pheno_score : 0.4111 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal cranium morphology Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.13 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Familial_melanoma; Hereditary_cancer-predisposing_syndrome; Lung_adenocarcinoma; Malignant_melanoma_of_skin; Melanoma; Melanoma,_cutaneous_malignant,_susceptibility_to,_3; Multiple_myeloma |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LYZGene_name : LYZ; LOEUF_bin : 9 GnomAD_pLI : 3.4114e-06 ExAC_pLI : 1.3755e-03 HI : . TS : . DDD_HI_percent : 14.96 ACMG : . ExAC_cnvZ : 0.279517711936921 ExAC_delZ : 0.129015909566353 ExAC_dupZ : 0.246044518660806 ExAC_synZ : -0.526057972733144 ExAC_misZ : 0.486836781733929 GenCC_disease : ALys amyloidosis; familial visceral amyloidosis GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 10350460; 10534505; 11849445[PMID]_12675840[PMID]; 12709420; 16329101; 17269695; 21574221; 8464497; 8566845 NCBI_gene_ID : 4069 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_000239 Tx_version : 3 Tx_start : 69348380 Tx_end : 69354234 Exon_count : 4 Overlapped_tx_length : 5854 Overlapped_CDS_length : 447 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69348380 Intersect_end : 69354234 |
0.4187Exomiser_gene_pheno_score : 0.4187 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:69348381-69354234P_loss_coord : 12:69348381-69354234 P_loss_source : morbid:LYZ P_loss_phen : Amyloidosis, renal, 105200 (3) AD P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Familial_visceral_amyloidosis,_Ostertag_type |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT81Gene_name : KRT81; LOEUF_bin : 9 GnomAD_pLI : 1.2108e-18 ExAC_pLI : 2.1584e-07 HI : . TS : . DDD_HI_percent : 32.88 ACMG : . ExAC_cnvZ : 0.264969846077252 ExAC_delZ : 0.703814814311008 ExAC_dupZ : 0.0819747015483376 ExAC_synZ : 0.868900072408572 ExAC_misZ : 0.996507792424147 GenCC_disease : monilethrix GenCC_moi : AD GenCC_classification : Limited; Supportive GenCC_pmid : 22628999; 9402962; 9402962[PMID]_9665406[PMID]; 9665406 NCBI_gene_ID : 3887 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_047428838 Tx_version : 1 Tx_start : 52285912 Tx_end : 52308624 Exon_count : 10 Overlapped_tx_length : 22712 Overlapped_CDS_length : 1518 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52285912 Intersect_end : 52308624 |
0.4123Exomiser_gene_pheno_score : 0.4123 Human_pheno_evidence : Brachydactyly; Monilethrix; Nail dysplasia Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:52285913-52308624P_loss_coord : 12:52285913-52308624 P_loss_source : morbid:KRT81 P_loss_phen : Monilethrix, 158000 (3) AD P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Beaded_hair |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT74Gene_name : KRT74; LOEUF_bin : 8 GnomAD_pLI : 2.1183e-14 ExAC_pLI : 8.3964e-09 HI : . TS : . DDD_HI_percent : 75.31 ACMG : . ExAC_cnvZ : 0.305603770605056 ExAC_delZ : 0.570982571009202 ExAC_dupZ : 0.118491982070902 ExAC_synZ : -1.13052369591303 ExAC_misZ : -0.763038963732837 GenCC_disease : autosomal dominant wooly hair; hypotrichosis 3; hypotrichosis simplex of the scalp; isolated familial wooly hair disorder; pure hair and nail ectodermal dysplasia GenCC_moi : AD GenCC_classification : Strong; Supportive GenCC_pmid : 20346438; 20346438[PMID]_21188418[PMID]; 21188418; 21188418[PMID]; 24714551[PMID] NCBI_gene_ID : 121391 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_175053 Tx_version : 4 Tx_start : 52565781 Tx_end : 52573843 Exon_count : 9 Overlapped_tx_length : 8062 Overlapped_CDS_length : 1590 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52565781 Intersect_end : 52573843 |
0.4056Exomiser_gene_pheno_score : 0.4056 Human_pheno_evidence : ?Ectodermal dysplasia 7, hair/nail type; Brachydactyly; Onycholysis Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:52565782-52573843P_loss_coord : 12:52565782-52573843 P_loss_source : morbid:KRT74 P_loss_phen : ?Ectodermal dysplasia 7, hair; nail type, 614929 (3) AR; ?Hypotrichosis 3, 613981 (3) AD; Woolly hair, AD, 194300 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RDH5Gene_name : RDH5; LOEUF_bin : 8 GnomAD_pLI : 8.8720e-11 ExAC_pLI : 3.1135e-06 HI : . TS : . DDD_HI_percent : 38.89 ACMG : . ExAC_cnvZ : 0.620847254186207 ExAC_delZ : 0.486847613247837 ExAC_dupZ : 0.453178202177808 ExAC_synZ : -0.637299902073639 ExAC_misZ : -0.213613923070691 GenCC_disease : RDH5-related retinopathy; fundus albipunctatus GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 10369264; 11448328; 11470705; 11675386; 21529959; 22736946[PMID]_25820994[PMID]; 22815624; 25820994; 6975055 NCBI_gene_ID : 5959 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001199771 Tx_version : 3 Tx_start : 55720392 Tx_end : 55724705 Exon_count : 5 Overlapped_tx_length : 4313 Overlapped_CDS_length : 957 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55720392 Intersect_end : 55724705 |
0.3927Exomiser_gene_pheno_score : 0.3927 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; delayed dark adaptation Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:55720393-55724705P_loss_coord : 12:55720393-55724705 P_loss_source : morbid:RDH5 P_loss_phen : Fundus albipunctatus, 136880 (3) AR,AD P_loss_hpo : . |
32P_snvindel_nb : 32 P_snvindel_phen : Congenital_stationary_night_blindness; Fundus_albipunctatus,_autosomal_recessive; Pigmentary_retinal_dystrophy; RDH5-related_condition; Retinal_dystrophy; Retinitis_punctata_albescens; See_cases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KERAGene_name : KERA; LOEUF_bin : 8 GnomAD_pLI : 1.7098e-07 ExAC_pLI : 4.1437e-04 HI : 30 TS : . DDD_HI_percent : 28.54 ACMG : . ExAC_cnvZ : 0.250670658979763 ExAC_delZ : 0.446874733713224 ExAC_dupZ : -0.000114032673499457 ExAC_synZ : -1.55238152028716 ExAC_misZ : -1.54819698441759 GenCC_disease : congenital cornea plana; cornea plana 2 GenCC_moi : AD; AR GenCC_classification : Strong; Supportive GenCC_pmid : 10802664; 10802664[PMID]; 16234475; 25967529; 31059048; 9591953 NCBI_gene_ID : 11081 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_007035 Tx_version : 4 Tx_start : 91050490 Tx_end : 91058024 Exon_count : 3 Overlapped_tx_length : 7534 Overlapped_CDS_length : 1059 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91050490 Intersect_end : 91058024 |
0.3885Exomiser_gene_pheno_score : 0.3885 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal iridocorneal angle Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.06 |
.RE_gene : . |
12:91050491-91058024P_loss_coord : 12:91050491-91058024 P_loss_source : morbid:KERA P_loss_phen : Cornea plana 2, AR, 217300 (3) AR P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Cornea_plana_2 |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DYRK2Gene_name : DYRK2; LOEUF_bin : 0 GnomAD_pLI : 9.9751e-01 ExAC_pLI : 9.7934e-01 HI : . TS : . DDD_HI_percent : 17.21 ACMG : . ExAC_cnvZ : 0.485711491060789 ExAC_delZ : 0.0571137557535225 ExAC_dupZ : 0.470066231089247 ExAC_synZ : 0.24535879958116 ExAC_misZ : 2.38470537872338 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8445 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_006482 Tx_version : 3 Tx_start : 67648744 Tx_end : 67665406 Exon_count : 3 Overlapped_tx_length : 16662 Overlapped_CDS_length : 1806 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67648744 Intersect_end : 67665406 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6412Exomiser_gene_pheno_score : 0.6412 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; absent basioccipital bone; sternebra fusion Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ITGA7Gene_name : ITGA7; LOEUF_bin : 4 GnomAD_pLI : 4.2657e-17 ExAC_pLI : 1.8098e-09 HI : . TS : . DDD_HI_percent : 24.65 ACMG : . ExAC_cnvZ : 0.439158447311687 ExAC_delZ : -0.558498517309963 ExAC_dupZ : 1.10324484750854 ExAC_synZ : -0.159023364049421 ExAC_misZ : 0.369313436203213 GenCC_disease : congenital fiber-type disproportion myopathy; congenital merosin-deficient muscular dystrophy 1A; congenital muscular dystrophy due to integrin alpha-7 deficiency GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 23800289; 23800289[PMID]; 9590299; 9590299[PMID] NCBI_gene_ID : 3679 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001410977 Tx_version : 1 Tx_start : 55684567 Tx_end : 55707904 Exon_count : 26 Overlapped_tx_length : 23337 Overlapped_CDS_length : 3546 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55684567 Intersect_end : 55707904 |
0.3351Exomiser_gene_pheno_score : 0.3351 Human_pheno_evidence : Brachydactyly; Congenital fiber-type disproportion myopathy; Flexion contracture of finger Mouse_pheno_evidence : Brachydactyly; abnormal soleus morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:55697675-55699446; 12:55697676-55698937P_loss_coord : 12:55697675-55699446; 12:55697676-55698937 P_loss_source : dbVar:nssv15129276; dbVar:nssv18792105 P_loss_phen : . P_loss_hpo : . |
24P_snvindel_nb : 24 P_snvindel_phen : Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KIF5AGene_name : KIF5A; LOEUF_bin : 0 GnomAD_pLI : 9.9995e-01 ExAC_pLI : 9.9998e-01 HI : . TS : . DDD_HI_percent : 21.13 ACMG : . ExAC_cnvZ : -0.199356490639355 ExAC_delZ : 0.355654077775294 ExAC_dupZ : -0.493358221307642 ExAC_synZ : 0.40129886770067 ExAC_misZ : 4.84434740586127 GenCC_disease : amyotrophic lateral sclerosis, susceptibility to, 25; autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation; hereditary spastic paraplegia 10; inherited neurodegenerative disorder; myoclonus, intractable, neonatal GenCC_moi : AD GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive GenCC_pmid : 10441583; 12682084; 18203753; 21087519; 21623771[PMID]; 22466687; 23209432; 23217743; 24161670; 25352184; 25355224; 26374131; 27084214; 27414745; 27463701; 29342275; 29566793; 30301576; 31422367; 32888732; 33681666; 34758253; 836070 NCBI_gene_ID : 3798 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_004984 Tx_version : 4 Tx_start : 57550043 Tx_end : 57586633 Exon_count : 29 Overlapped_tx_length : 36590 Overlapped_CDS_length : 3099 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57550043 Intersect_end : 57586633 |
0.2864Exomiser_gene_pheno_score : 0.2864 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; impaired pupillary reflex Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:57550044-57586633P_loss_coord : 12:57550044-57586633 P_loss_source : morbid:KIF5A P_loss_phen : Myoclonus, intractable, neonatal, 617235 (3) AD; Spastic paraplegia 10, AD, 604187 (3) AD; Amyotrophic lateral sclerosis, susceptibility to, 25, 617921 (3) AD P_loss_hpo : . |
28P_snvindel_nb : 28 P_snvindel_phen : Amyotrophic_lateral_sclerosis,_susceptibility_to,_25; Hereditary_spastic_paraplegia; Hereditary_spastic_paraplegia_10; KIF5A-Related_Disorders; KIF5A-related_condition; Myoclonus,_intractable,_neonatal; Spastic_paraplegia |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MDM2Gene_name : MDM2; LOEUF_bin : 0 GnomAD_pLI : 9.9981e-01 ExAC_pLI : 9.9541e-01 HI : . TS : . DDD_HI_percent : 1.12 ACMG : . ExAC_cnvZ : -0.667730133119681 ExAC_delZ : 0.635360767676067 ExAC_dupZ : -1.2070961294051 ExAC_synZ : -0.29845798359063 ExAC_misZ : 1.74903183818554 GenCC_disease : lessel-kubisch syndrome GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 28846075 NCBI_gene_ID : 4193 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_002392 Tx_version : 6 Tx_start : 68808176 Tx_end : 68845544 Exon_count : 11 Overlapped_tx_length : 37368 Overlapped_CDS_length : 1494 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68808176 Intersect_end : 68845544 |
0.4372Exomiser_gene_pheno_score : 0.4372 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; increased foot pad pigmentation Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.08 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TSFMGene_name : TSFM; LOEUF_bin : 7 GnomAD_pLI : 1.9197e-09 ExAC_pLI : 9.8046e-08 HI : . TS : . DDD_HI_percent : 44.43 ACMG : . ExAC_cnvZ : -1.57559163306434 ExAC_delZ : -1.47353613607719 ExAC_dupZ : -1.49597048114131 ExAC_synZ : -0.664912068208333 ExAC_misZ : -0.738444475346535 GenCC_disease : Leigh syndrome; fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 17033963; 17033963[PMID]; 20435138; 21119709; 22499341; 25037205; 25078778; 27677415; 30911037 NCBI_gene_ID : 10102 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_001172696 Tx_version : 2 Tx_start : 57782786 Tx_end : 57797587 Exon_count : 7 Overlapped_tx_length : 14801 Overlapped_CDS_length : 1041 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57782786 Intersect_end : 57797587 |
0.3482Exomiser_gene_pheno_score : 0.3482 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:57782793-57782868; 12:57782793-57793083; 1[...]P_loss_coord : 12:57782793-57782868; 12:57782793-57793083; 12:57791946-57793093; 12:57791956-57796593; 12:57792977-57793083; 12:57792977-57796593 P_loss_source : dbVar:nssv16213879; dbVar:nssv17171452; dbVar:nssv17171453; dbVar:nssv17971813; dbVar:nssv17973798; dbVar:nssv18791713 P_loss_phen : . P_loss_hpo : . |
32P_snvindel_nb : 32 P_snvindel_phen : Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3; Inborn_genetic_diseases; Primary_dilated_cardiomyopathy |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RARGGene_name : RARG; LOEUF_bin : 0 GnomAD_pLI : 9.9478e-01 ExAC_pLI : 9.7006e-01 HI : . TS : . DDD_HI_percent : 14.35 ACMG : . ExAC_cnvZ : 0.770780980217708 ExAC_delZ : 0.626094916158231 ExAC_dupZ : 0.579022482129434 ExAC_synZ : 0.62894067846264 ExAC_misZ : 3.66303754974823 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5916 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_000966 Tx_version : 6 Tx_start : 53210568 Tx_end : 53232209 Exon_count : 10 Overlapped_tx_length : 21641 Overlapped_CDS_length : 1365 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53210568 Intersect_end : 53232209 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6090Exomiser_gene_pheno_score : 0.6090 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal basioccipital bone morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OSBPL8Gene_name : OSBPL8; LOEUF_bin : 1 GnomAD_pLI : 1.0518e-02 ExAC_pLI : 9.8835e-01 HI : . TS : . DDD_HI_percent : 11.66 ACMG : . ExAC_cnvZ : 1.05081228051377 ExAC_delZ : 0.690567558528359 ExAC_dupZ : 1.00273249201778 ExAC_synZ : 0.553834483007001 ExAC_misZ : 1.99902447261577 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 114882 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : XM_047428246 Tx_version : 1 Tx_start : 76351796 Tx_end : 76559008 Exon_count : 25 Overlapped_tx_length : 207212 Overlapped_CDS_length : 2778 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76351796 Intersect_end : 76559008 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6140Exomiser_gene_pheno_score : 0.6140 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal eye morphology; abnormal sternum morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DENND5BGene_name : DENND5B; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9995e-01 HI : . TS : . DDD_HI_percent : 57.04 ACMG : . ExAC_cnvZ : 0.706727862864978 ExAC_delZ : -0.156068886506676 ExAC_dupZ : 1.12119821854226 ExAC_synZ : -0.462180764793211 ExAC_misZ : 2.99967264225011 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 160518 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : XM_047428415 Tx_version : 1 Tx_start : 31382225 Tx_end : 31500652 Exon_count : 23 Overlapped_tx_length : 118427 Overlapped_CDS_length : 4041 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31382225 Intersect_end : 31500652 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.5953Exomiser_gene_pheno_score : 0.5953 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC4Gene_name : HOXC4; LOEUF_bin : 3 GnomAD_pLI : 1.6846e-01 ExAC_pLI : 3.1149e-01 HI : . TS : . DDD_HI_percent : 10.5 ACMG : . ExAC_cnvZ : 0.706859659207223 ExAC_delZ : 0.262771709807929 ExAC_dupZ : 0.636068483899632 ExAC_synZ : 2.2314279336267 ExAC_misZ : 1.86074930000501 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3221 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_014620 Tx_version : 6 Tx_start : 54016887 Tx_end : 54056030 Exon_count : 4 Overlapped_tx_length : 39143 Overlapped_CDS_length : 795 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54016887 Intersect_end : 54056030 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6287Exomiser_gene_pheno_score : 0.6287 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IFNGGene_name : IFNG; LOEUF_bin : 4 GnomAD_pLI : 4.7156e-01 ExAC_pLI : 2.0447e-02 HI : . TS : . DDD_HI_percent : 3.19 ACMG : . ExAC_cnvZ : 0.279037403803662 ExAC_delZ : 0.425031182133285 ExAC_dupZ : 0.0436325677813211 ExAC_synZ : 0.0639283450121429 ExAC_misZ : 1.21996539792152 GenCC_disease : immunodeficiency 69 GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 32163377 NCBI_gene_ID : 3458 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_000619 Tx_version : 3 Tx_start : 68154767 Tx_end : 68159740 Exon_count : 4 Overlapped_tx_length : 4973 Overlapped_CDS_length : 501 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68154767 Intersect_end : 68159740 |
147570; OMIM_ID : 147570; OMIM_phenotype : ?Immunodeficiency 69, mycobacteriosis, 618963 (3) AR; (AIDS, rapid progression to), 609423 (3); (Aplastic anemia), 609135 (3); (Hepatitis C virus, response to therapy of), 609532 (3); (TSC2 angiomyolipomas, renal, modifier of), 613254 (3) AD; (Tuberculosis, protection against), 607948 (3); OMIM_inheritance : AD; AR OMIM_morbid : . OMIM_morbid_candidate : yes |
0.3465Exomiser_gene_pheno_score : 0.3465 Human_pheno_evidence : Brachydactyly; Subungual fibromas; TSC2 angiomyolipomas, renal, modifier of Mouse_pheno_evidence : Craniosynostosis; alveolar process atrophy Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.17 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MSRB3Gene_name : MSRB3; LOEUF_bin : 6 GnomAD_pLI : 3.7660e-03 ExAC_pLI : 7.0268e-03 HI : 30 TS : 0 DDD_HI_percent : 15.61 ACMG : . ExAC_cnvZ : -0.341595993962896 ExAC_delZ : -0.364734875394086 ExAC_dupZ : -0.313352021032889 ExAC_synZ : -0.12672149867469 ExAC_misZ : 0.726933990409373 GenCC_disease : autosomal recessive nonsyndromic hearing loss 74; hearing loss, autosomal recessive; nonsyndromic genetic hearing loss GenCC_moi : AR GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 19650862; 21185009; 24148127[PMID]; 24191262; 24949729; 250970; 26649646 NCBI_gene_ID : 253827 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : NM_198080 Tx_version : 4 Tx_start : 65278682 Tx_end : 65466907 Exon_count : 6 Overlapped_tx_length : 188225 Overlapped_CDS_length : 579 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65278682 Intersect_end : 65466907 |
0.3119Exomiser_gene_pheno_score : 0.3119 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal outer hair cell stereociliary bundle morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:65305105-65466907; 12:65326807-65328623P_loss_coord : 12:65305105-65466907; 12:65326807-65328623 P_loss_source : dbVar:nssv18790303; morbid:MSRB3 P_loss_phen : Deafness, AR 74, 613718 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_74 |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SOCS2Gene_name : SOCS2; LOEUF_bin : 3 GnomAD_pLI : 6.2999e-01 ExAC_pLI : 9.8530e-02 HI : . TS : . DDD_HI_percent : 10.58 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.132540685596616 ExAC_misZ : 1.39565441817948 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8835 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : XM_017020147 Tx_version : 2 Tx_start : 93569968 Tx_end : 93576203 Exon_count : 4 Overlapped_tx_length : 6235 Overlapped_CDS_length : 732 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93569968 Intersect_end : 93576203 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6264Exomiser_gene_pheno_score : 0.6264 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; long radius Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC9Gene_name : HOXC9; LOEUF_bin : 6 GnomAD_pLI : 1.2993e-02 ExAC_pLI : 1.2810e-01 HI : . TS : . DDD_HI_percent : 6.95 ACMG : . ExAC_cnvZ : 0.713724934697255 ExAC_delZ : 0.271718669563953 ExAC_dupZ : 0.643315967561734 ExAC_synZ : 2.83566526727151 ExAC_misZ : 2.81936054391489 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3225 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_006897 Tx_version : 3 Tx_start : 54000160 Tx_end : 54003337 Exon_count : 2 Overlapped_tx_length : 3177 Overlapped_CDS_length : 783 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54000160 Intersect_end : 54003337 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6602Exomiser_gene_pheno_score : 0.6602 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; asymmetric sternocostal joints Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC10Gene_name : HOXC10; LOEUF_bin : 3 GnomAD_pLI : 1.7368e-01 ExAC_pLI : 6.4835e-01 HI : . TS : . DDD_HI_percent : 5.45 ACMG : . ExAC_cnvZ : 0.546249813343244 ExAC_delZ : 0.104727202529942 ExAC_dupZ : 0.501992502121547 ExAC_synZ : 2.2312644975755 ExAC_misZ : 1.33383182807273 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3226 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_017409 Tx_version : 4 Tx_start : 53985145 Tx_end : 53990279 Exon_count : 2 Overlapped_tx_length : 5134 Overlapped_CDS_length : 1029 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53985145 Intersect_end : 53990279 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6213Exomiser_gene_pheno_score : 0.6213 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal bone mineralization; abnormal pelvic girdle bone morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MYL2Gene_name : MYL2; LOEUF_bin : 8 GnomAD_pLI : 2.7303e-08 ExAC_pLI : 1.6813e-02 HI : 30 TS : 0 DDD_HI_percent : 18.05 ACMG : ACMG ExAC_cnvZ : 0.592722466273153 ExAC_delZ : 0.443807021193852 ExAC_dupZ : 0.519767078086166 ExAC_synZ : -0.264522082167926 ExAC_misZ : 0.918227252651312 GenCC_disease : arrhythmogenic right ventricular cardiomyopathy; congenital fiber-type disproportion myopathy; dilated cardiomyopathy; hypertrophic cardiomyopathy; hypertrophic cardiomyopathy 10; myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Moderate; No Known Disease Relationship; Strong; Supportive GenCC_pmid : 11102452; 12404107; 12668451; 12707239; 16076902; 16837010; 18533079; 18929571; 19914255; 22429680; 23343568; 23365102; 23365102[PMID]; 24111713; 25324513; 25611685; 28007147; 28640247; 28912181; 29988065; 30681346; 30696458; 32453731; 32731933; 8673105; 9535554 NCBI_gene_ID : 4633 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_000432 Tx_version : 4 Tx_start : 110910844 Tx_end : 110920579 Exon_count : 7 Overlapped_tx_length : 9735 Overlapped_CDS_length : 501 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110910844 Intersect_end : 110920579 |
0.3275Exomiser_gene_pheno_score : 0.3275 Human_pheno_evidence : Brachydactyly; Congenital fiber-type disproportion myopathy; Flexion contracture of finger Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
6P_snvindel_nb : 6 P_snvindel_phen : Cardiomyopathy; Cardiovascular_phenotype; Death_in_early_adulthood; Hypertrophic_cardiomyopathy; Hypertrophic_cardiomyopathy_10; MYL2-related_condition; Myopathy,_myofibrillar,_12,_infantile-onset,_with_cardiomyopathy; Primary_familial_hypertrophic_cardiomyopathy |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SH2B3Gene_name : SH2B3; LOEUF_bin : 4 GnomAD_pLI : 1.0289e-04 ExAC_pLI : 5.9222e-03 HI : . TS : . DDD_HI_percent : 61.02 ACMG : . ExAC_cnvZ : 1.01485176229124 ExAC_delZ : 0.553730001436978 ExAC_dupZ : 0.894031979896815 ExAC_synZ : 2.05920878222505 ExAC_misZ : 0.65429198798737 GenCC_disease : growth retardation-mild developmental delay-chronic hepatitis syndrome; primary familial polycythemia due to EPO receptor mutation; schizophrenia; thrombocythemia 1 GenCC_moi : AR GenCC_classification : No Known Disease Relationship; Supportive GenCC_pmid : 23908464[PMID]; 24777453; 26666178; 27216218; 27237057; 27651169; 29703677 NCBI_gene_ID : 10019 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : 5'UTR-3'UTR Tx : XM_011537720 Tx_version : 4 Tx_start : 111404729 Tx_end : 111451623 Exon_count : 9 Overlapped_tx_length : 46894 Overlapped_CDS_length : 1851 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111404729 Intersect_end : 111451623 |
0.2849Exomiser_gene_pheno_score : 0.2849 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal megakaryocyte morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:111445028-111451623P_loss_coord : 12:111445028-111451623 P_loss_source : morbid:SH2B3 P_loss_phen : Erythrocytosis, somatic, 133100 (3); Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3) P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Hereditary_cancer-predisposing_syndrome; Primary_familial_polycythemia_due_to_EPO_receptor_mutation; Thrombocythemia_1 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HSPB8Gene_name : HSPB8; LOEUF_bin : 6 GnomAD_pLI : 4.3128e-02 ExAC_pLI : 2.7755e-02 HI : . TS : . DDD_HI_percent : 67.09 ACMG : . ExAC_cnvZ : 0.264906654204911 ExAC_delZ : 0.655731697618644 ExAC_dupZ : -0.0433795813006844 ExAC_synZ : 1.06988432903888 ExAC_misZ : 0.227907376816929 GenCC_disease : Charcot-Marie-Tooth disease axonal type 2L; autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome; distal hereditary motor neuropathy type 2; neuronopathy, distal hereditary motor, autosomal dominant; neuronopathy, distal hereditary motor, type 2A GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15021985; 15122253; 15122253[PMID]; 15565283; 20157854; 20301462[PMID]; 20538880; 21983727; 21985219; 22176143; 26718575; 26718575[PMID]; 28501893; 8817349 NCBI_gene_ID : 26353 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_014365 Tx_version : 3 Tx_start : 119178930 Tx_end : 119194746 Exon_count : 3 Overlapped_tx_length : 15816 Overlapped_CDS_length : 591 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119178930 Intersect_end : 119194746 |
0.3037Exomiser_gene_pheno_score : 0.3037 Human_pheno_evidence : Brachydactyly; Neuronopathy, distal hereditary motor, type IIA; Paresis of extensor muscles of the big toe Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:119178931-119194746P_loss_coord : 12:119178931-119194746 P_loss_source : morbid:HSPB8 P_loss_phen : Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3) AD; Neuronopathy, distal hereditary motor, AD 2, 158590 (3) AD P_loss_hpo : . |
4P_snvindel_nb : 4 P_snvindel_phen : Charcot-Marie-Tooth_disease; Charcot-Marie-Tooth_disease_axonal_type_2L; Neuronopathy,_distal_hereditary_motor,_type_2A |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NAA25Gene_name : NAA25; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9999e-01 HI : . TS : . DDD_HI_percent : 13.37 ACMG : . ExAC_cnvZ : 1.44782854437233 ExAC_delZ : 1.34054566482752 ExAC_dupZ : 1.10610574240555 ExAC_synZ : 0.86070913601657 ExAC_misZ : 3.15956368616004 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80018 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_024953 Tx_version : 4 Tx_start : 112026688 Tx_end : 112108783 Exon_count : 24 Overlapped_tx_length : 82095 Overlapped_CDS_length : 2919 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112026688 Intersect_end : 112108783 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.5830Exomiser_gene_pheno_score : 0.5830 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal sternum morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IRAK3Gene_name : IRAK3; LOEUF_bin : 8 GnomAD_pLI : 5.3092e-21 ExAC_pLI : 3.5818e-15 HI : . TS : . DDD_HI_percent : 60.65 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.0901141372561782 ExAC_misZ : -1.66958942160253 GenCC_disease : asthma-related traits, susceptibility to, 5 GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 11213 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : NM_007199 Tx_version : 3 Tx_start : 66189213 Tx_end : 66254622 Exon_count : 12 Overlapped_tx_length : 65409 Overlapped_CDS_length : 1791 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66189213 Intersect_end : 66254622 |
0.4960Exomiser_gene_pheno_score : 0.4960 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal trabecular bone morphology; decreased diameter of femur Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ORAI1Gene_name : ORAI1; LOEUF_bin : 9 GnomAD_pLI : 1.9068e-05 ExAC_pLI : 3.0534e-03 HI : . TS : . DDD_HI_percent : 35.62 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.491750395328908 ExAC_misZ : 2.33598558700082 GenCC_disease : Stormorken syndrome; combined immunodeficiency due to ORAI1 deficiency; myopathy, tubular aggregate, 2; tubular aggregate myopathy GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15452313; 16582901; 18187424; 20004786; 20956344; 22641696; 24591628; 24591628[PMID]; 25227914; 26070885; NULL NCBI_gene_ID : 84876 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_186857 Tx_version : 1 Tx_start : 121626529 Tx_end : 121643109 Exon_count : 2 Overlapped_tx_length : 16580 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121626529 Intersect_end : 121643109 |
0.3277Exomiser_gene_pheno_score : 0.3277 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; blepharitis Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.06 |
.RE_gene : . |
12:121626530-121643109; 12:121626744-121627070P_loss_coord : 12:121626530-121643109; 12:121626744-121627070 P_loss_source : dbVar:nssv17975070; morbid:ORAI1 P_loss_phen : Immunodeficiency 9, 612782 (3) AR; Myopathy, tubular aggregate, 2, 615883 (3) AD P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Combined_immunodeficiency_due_to_ORAI1_deficiency; Myopathy,_tubular_aggregate,_2 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MYF6Gene_name : MYF6; LOEUF_bin : 6 GnomAD_pLI : 4.1218e-03 ExAC_pLI : 7.6286e-02 HI : . TS : . DDD_HI_percent : 3.19 ACMG : . ExAC_cnvZ : -0.0327670221552589 ExAC_delZ : -0.835150811707908 ExAC_dupZ : 0.507450842899403 ExAC_synZ : 1.51000508429559 ExAC_misZ : 1.21057538625042 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4618 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_002469 Tx_version : 3 Tx_start : 80707633 Tx_end : 80709474 Exon_count : 3 Overlapped_tx_length : 1841 Overlapped_CDS_length : 729 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80707633 Intersect_end : 80709474 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6412Exomiser_gene_pheno_score : 0.6412 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternocostal joint morphology; abnormal sternum ossification Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:80502697-80806958 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ALG10Gene_name : ALG10; LOEUF_bin : 6 GnomAD_pLI : 1.3151e-06 ExAC_pLI : 5.7491e-03 HI : . TS : . DDD_HI_percent : 78.43 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.729374533840106 ExAC_misZ : 0.192366099362242 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84920 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.1 Location2 : 5'UTR-3'UTR Tx : NM_032834 Tx_version : 4 Tx_start : 34022495 Tx_end : 34028302 Exon_count : 3 Overlapped_tx_length : 5807 Overlapped_CDS_length : 1422 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 34022495 Intersect_end : 34028302 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : yes |
0.4496Exomiser_gene_pheno_score : 0.4496 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal limb bud morphology; abnormal optic vesicle formation Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
esv2761043B_loss_source : esv2761043 B_loss_coord : 12:33141565-34701563 B_loss_AFmax : 0.0400 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ALG10BGene_name : ALG10B; LOEUF_bin : 7 GnomAD_pLI : 2.0263e-08 ExAC_pLI : 1.5277e-04 HI : . TS : . DDD_HI_percent : 65.23 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.35962826981283 ExAC_misZ : -1.08145350626351 GenCC_disease : long QT syndrome 2 GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 3707172 NCBI_gene_ID : 144245 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001013620 Tx_version : 4 Tx_start : 38316773 Tx_end : 38329721 Exon_count : 3 Overlapped_tx_length : 12948 Overlapped_CDS_length : 1422 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 38316773 Intersect_end : 38329721 |
0.4496Exomiser_gene_pheno_score : 0.4496 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal limb bud morphology; abnormal optic vesicle formation Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMPOGene_name : TMPO; LOEUF_bin : 5 GnomAD_pLI : 1.5453e-07 ExAC_pLI : 6.5954e-04 HI : . TS : . DDD_HI_percent : 9.68 ACMG : . ExAC_cnvZ : 0.802279907248399 ExAC_delZ : 0.677222324859736 ExAC_dupZ : 0.572047628751819 ExAC_synZ : -2.03401936667694 ExAC_misZ : -0.717986942958708 GenCC_disease : dilated cardiomyopathy; familial isolated dilated cardiomyopathy; hypertrophic cardiomyopathy GenCC_moi : AD GenCC_classification : No Known Disease Relationship; Refuted Evidence; Supportive GenCC_pmid : 16247757[PMID]_20301486[PMID] NCBI_gene_ID : 7112 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_003276 Tx_version : 2 Tx_start : 98515572 Tx_end : 98535634 Exon_count : 4 Overlapped_tx_length : 20062 Overlapped_CDS_length : 2085 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98515572 Intersect_end : 98535634 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6027Exomiser_gene_pheno_score : 0.6027 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal autopod morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TPH2Gene_name : TPH2; LOEUF_bin : 4 GnomAD_pLI : 2.5364e-07 ExAC_pLI : 6.9691e-01 HI : . TS : . DDD_HI_percent : 14.47 ACMG : . ExAC_cnvZ : 0.716297068298831 ExAC_delZ : -0.0315127450584532 ExAC_dupZ : 1.09592227055577 ExAC_synZ : -1.11359731609589 ExAC_misZ : 1.03632517338037 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6999 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_173353 Tx_version : 4 Tx_start : 71938844 Tx_end : 72032440 Exon_count : 11 Overlapped_tx_length : 93596 Overlapped_CDS_length : 1473 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71938844 Intersect_end : 72032440 |
0.4056Exomiser_gene_pheno_score : 0.4056 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GLS2Gene_name : GLS2; LOEUF_bin : 4 GnomAD_pLI : 1.3239e-10 ExAC_pLI : 9.8712e-04 HI : . TS : . DDD_HI_percent : 12.72 ACMG : . ExAC_cnvZ : 0.788454514380325 ExAC_delZ : 0.630430391176599 ExAC_dupZ : 0.692769903467694 ExAC_synZ : -0.695606324604828 ExAC_misZ : 2.50373251761168 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 27165 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_013267 Tx_version : 4 Tx_start : 56470951 Tx_end : 56488161 Exon_count : 18 Overlapped_tx_length : 17210 Overlapped_CDS_length : 1809 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56470951 Intersect_end : 56488161 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.5830Exomiser_gene_pheno_score : 0.5830 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal sternum morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC38A2Gene_name : SLC38A2; LOEUF_bin : 0 GnomAD_pLI : 9.9709e-01 ExAC_pLI : 9.6936e-01 HI : . TS : . DDD_HI_percent : 31.23 ACMG : . ExAC_cnvZ : 0.336843036702361 ExAC_delZ : -0.250255311150847 ExAC_dupZ : 0.621280026030354 ExAC_synZ : -0.933421575226352 ExAC_misZ : 0.481108062927941 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 54407 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_018976 Tx_version : 5 Tx_start : 46358187 Tx_end : 46372773 Exon_count : 16 Overlapped_tx_length : 14586 Overlapped_CDS_length : 1521 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46358187 Intersect_end : 46372773 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.5178Exomiser_gene_pheno_score : 0.5178 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal femur morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NUP37Gene_name : NUP37; LOEUF_bin : 5 GnomAD_pLI : 1.0763e-05 ExAC_pLI : 9.9833e-04 HI : . TS : . DDD_HI_percent : 6.45 ACMG : . ExAC_cnvZ : 0.522795711066576 ExAC_delZ : 0.132648528656142 ExAC_dupZ : 0.570945804186198 ExAC_synZ : 0.367070237645818 ExAC_misZ : 0.43442461608383 GenCC_disease : familial idiopathic steroid-resistant nephrotic syndrome GenCC_moi : AD GenCC_classification : Supportive GenCC_pmid : 30179222[PMID] NCBI_gene_ID : 79023 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_024057 Tx_version : 4 Tx_start : 102073102 Tx_end : 102120114 Exon_count : 10 Overlapped_tx_length : 47012 Overlapped_CDS_length : 981 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102073102 Intersect_end : 102120114 |
0.3857Exomiser_gene_pheno_score : 0.3857 Human_pheno_evidence : ?Microcephaly 24, primary, autosomal recessive; Brachydactyly; Clinodactyly of the 5th finger Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.07 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Microcephaly_24,_primary,_autosomal_recessive |
dbVarB_loss_source : dbVar B_loss_coord : chr12:102057222-102377222 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NCOR2Gene_name : NCOR2; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 17.66 ACMG : . ExAC_cnvZ : -1.38513631558266 ExAC_delZ : -0.0404775661326292 ExAC_dupZ : -1.90330344693036 ExAC_synZ : -1.26194197382491 ExAC_misZ : 2.23462853607651 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9612 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_006312 Tx_version : 6 Tx_start : 124324414 Tx_end : 124567612 Exon_count : 49 Overlapped_tx_length : 243198 Overlapped_CDS_length : 7545 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124324414 Intersect_end : 124567612 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4833Exomiser_gene_pheno_score : 0.4833 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; long tibia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HCAR1Gene_name : HCAR1; LOEUF_bin : 8 GnomAD_pLI : 7.5927e-04 ExAC_pLI : 1.4100e-01 HI : . TS : . DDD_HI_percent : 70.87 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.925604044120751 ExAC_misZ : -0.132017843737803 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 27198 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_032554 Tx_version : 4 Tx_start : 122726075 Tx_end : 122730844 Exon_count : 1 Overlapped_tx_length : 4769 Overlapped_CDS_length : 1041 Overlapped_CDS_percent : 67 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122726075 Intersect_end : 122730844 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.5819Exomiser_gene_pheno_score : 0.5819 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal pelvic girdle bone morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PKP2Gene_name : PKP2; LOEUF_bin : 5 GnomAD_pLI : 3.1147e-18 ExAC_pLI : 6.1431e-10 HI : 3 TS : 0 DDD_HI_percent : 58.3 ACMG : ACMG ExAC_cnvZ : 1.05692421335637 ExAC_delZ : 0.393088014266191 ExAC_dupZ : 1.17235571368516 ExAC_synZ : 0.989350863734272 ExAC_misZ : -0.104314724560747 GenCC_disease : Brugada syndrome; Brugada syndrome 1; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 9; catecholaminergic polymorphic ventricular tachycardia; dilated cardiomyopathy; left ventricular noncompaction GenCC_moi : AD GenCC_classification : Definitive; Disputed Evidence; Limited; Strong; Supportive GenCC_pmid : 15489853; 17010805; 17041889; 20301310; 20716751; 21636032; 21859740; 22781308; 23736219; 23911551; 24070718; 24704780; 25616645; 27030002[PMID]; 28740174; 30619891; 30830208; 33831308; 34120153 NCBI_gene_ID : 5318 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_004572 Tx_version : 4 Tx_start : 32790754 Tx_end : 32896777 Exon_count : 14 Overlapped_tx_length : 106023 Overlapped_CDS_length : 2646 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 32790754 Intersect_end : 32896777 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:32790756-32896777; 12:32792405-32824182; 1[...]P_loss_coord : 12:32790756-32896777; 12:32792405-32824182; 12:32792405-32896751; 12:32792415-32796308; 12:32792415-32896741; 12:32792425-32796318; 12:32796090-32796318; 12:32796090-32802576; 12:32796100-32796308; 12:32796100-32802566; 12:32796110-32802556; 12:32801396-32802409; 12:32802384-32802576; 12:32820144-32896777; 12:32824026-32824182; 12:32824036-32824172; 12:32824046-32824162; 12:32841027-32841207; 12:32841028-32841206; 12:32841028-32850974; 12:32842944-32843250; 12:32843316-32868927; 12:32850747-32850993; 12:32850757-32850983; 12:32850761-32850979; 12:32868908-32869082; 12:32868908-32879052; 12:32868918-32869072; 12:32868918-32879042; 12:32877827-32879052; 12:32877827-32896731; 12:32877837-32879042; 12:32877837-32896741; 12:32877847-32879032; 12:32878982-32880672; 12:32878983-32880671 P_loss_source : CLN:1319957; CLN:565438; HI3:PKP2; dbVar:nssv15123508; dbVar:nssv15129211; dbVar:nssv15129895; dbVar:nssv15130056; dbVar:nssv15143997; dbVar:nssv15144634; nssv18326715; dbVar:nssv15144750; dbVar:nssv15144775; dbVar:nssv15770355; dbVar:nssv16211823; dbVar:nssv16212093; dbVar:nssv16213957; dbVar:nssv16214183; dbVar:nssv16214307; dbVar:nssv16216585; dbVar:nssv17171757; dbVar:nssv17171758; dbVar:nssv17171759; dbVar:nssv17171760; dbVar:nssv17172197; dbVar:nssv17955823; dbVar:nssv17971165; dbVar:nssv17972203; dbVar:nssv17972980; dbVar:nssv17973863; dbVar:nssv18789887; dbVar:nssv18789888; dbVar:nssv18789889; dbVar:nssv18789890; dbVar:nssv18792554; dbVar:nssv18792892; dbVar:nssv8639447; morbid:PKP2 P_loss_phen : Arrhythmogenic right ventricular dysplasia 9, 609040 (3) AD; Cardiomyopathy; Cardiovascular_phenotype|Arrhythmogenic_right_ventricular_dysplasia_9 P_loss_hpo : HP:0001638 |
204P_snvindel_nb : 204 P_snvindel_phen : Aborted_sudden_cardiac_death; Arrhythmogenic_right_ventricular_cardiomyopathy; Arrhythmogenic_right_ventricular_dysplasia_1; Arrhythmogenic_right_ventricular_dysplasia_9; Arrhythmogenic_ventricular_cardiomyopathy; Cardiac_arrhythmia; Cardiomyopathy; Cardiovascular_phenotype; Familial_isolated_arrhythmogenic_right_ventricular_dysplasia; PKP2-related_condition; Sudden_unexplained_death; Ventricular_tachycardia |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FRS2Gene_name : FRS2; LOEUF_bin : 0 GnomAD_pLI : 9.9721e-01 ExAC_pLI : 9.7907e-01 HI : . TS : . DDD_HI_percent : 1.16 ACMG : . ExAC_cnvZ : 0.603164804443116 ExAC_delZ : 0.490664535249188 ExAC_dupZ : 0.404519593732538 ExAC_synZ : -0.278988323783655 ExAC_misZ : 1.10651966626862 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10818 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_001042555 Tx_version : 3 Tx_start : 69470387 Tx_end : 69579793 Exon_count : 10 Overlapped_tx_length : 109406 Overlapped_CDS_length : 1527 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69470387 Intersect_end : 69579793 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4745Exomiser_gene_pheno_score : 0.4745 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal limb morphology; anophthalmia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM119Gene_name : TMEM119; LOEUF_bin : 5 GnomAD_pLI : 6.2503e-01 ExAC_pLI : 9.5674e-03 HI : . TS : . DDD_HI_percent : 83.64 ACMG : . ExAC_cnvZ : 0.537027244444024 ExAC_delZ : 0.161692207256206 ExAC_dupZ : 0.489276440552992 ExAC_synZ : -0.169762146401214 ExAC_misZ : -0.65205495991885 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 338773 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_181724 Tx_version : 3 Tx_start : 108589850 Tx_end : 108598084 Exon_count : 2 Overlapped_tx_length : 8234 Overlapped_CDS_length : 852 Overlapped_CDS_percent : 98 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108589850 Intersect_end : 108598084 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.5386Exomiser_gene_pheno_score : 0.5386 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; delayed endochondral bone ossification Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
P2RX7Gene_name : P2RX7; LOEUF_bin : 5 GnomAD_pLI : 3.3344e-11 ExAC_pLI : 3.7897e-06 HI : . TS : . DDD_HI_percent : 53.8 ACMG : . ExAC_cnvZ : -0.161392363997259 ExAC_delZ : 0.966151619591823 ExAC_dupZ : -0.652609455179337 ExAC_synZ : -0.146151095436323 ExAC_misZ : 0.458452876320462 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5027 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_002562 Tx_version : 6 Tx_start : 121132875 Tx_end : 121188032 Exon_count : 13 Overlapped_tx_length : 55157 Overlapped_CDS_length : 1788 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121132875 Intersect_end : 121188032 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.5335Exomiser_gene_pheno_score : 0.5335 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal skeleton physiology; decreased diameter of femur Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CORO1CGene_name : CORO1C; LOEUF_bin : 0 GnomAD_pLI : 9.9813e-01 ExAC_pLI : 9.9727e-01 HI : . TS : . DDD_HI_percent : 33.94 ACMG : . ExAC_cnvZ : 1.40290369714728 ExAC_delZ : 0.965833570341675 ExAC_dupZ : 1.1872032513978 ExAC_synZ : -0.753726904805482 ExAC_misZ : 2.31313032229499 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23603 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001105237 Tx_version : 2 Tx_start : 108645108 Tx_end : 108702998 Exon_count : 11 Overlapped_tx_length : 57890 Overlapped_CDS_length : 1584 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108645108 Intersect_end : 108702998 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4548Exomiser_gene_pheno_score : 0.4548 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; basisphenoid bone foramen Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LRIG3Gene_name : LRIG3; LOEUF_bin : 3 GnomAD_pLI : 1.1655e-09 ExAC_pLI : 4.2629e-01 HI : . TS : . DDD_HI_percent : 42.67 ACMG : . ExAC_cnvZ : -0.493486212544616 ExAC_delZ : -1.73171537600473 ExAC_dupZ : 0.402066295124461 ExAC_synZ : 0.522593608800955 ExAC_misZ : 0.744537884200646 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121227 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_153377 Tx_version : 5 Tx_start : 58872154 Tx_end : 58920504 Exon_count : 19 Overlapped_tx_length : 48350 Overlapped_CDS_length : 3360 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58872154 Intersect_end : 58920504 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4881Exomiser_gene_pheno_score : 0.4881 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal caudal vertebrae morphology; abnormal cranium morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DIP2BGene_name : DIP2B; LOEUF_bin : 0 GnomAD_pLI : 9.9924e-01 ExAC_pLI : 9.9967e-01 HI : . TS : . DDD_HI_percent : 27.8 ACMG : . ExAC_cnvZ : 1.85937346161046 ExAC_delZ : 1.49877452958391 ExAC_dupZ : 1.74259227422189 ExAC_synZ : -0.342715073991275 ExAC_misZ : 2.94498922134151 GenCC_disease : intellectual disability, FRA12A type GenCC_moi : AD GenCC_classification : Limited; No Known Disease Relationship GenCC_pmid : 17236128 NCBI_gene_ID : 57609 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_173602 Tx_version : 3 Tx_start : 50504984 Tx_end : 50748657 Exon_count : 38 Overlapped_tx_length : 243673 Overlapped_CDS_length : 4731 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50504984 Intersect_end : 50748657 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.11 |
.RE_gene : . |
12:50504985-50748657P_loss_coord : 12:50504985-50748657 P_loss_source : morbid:DIP2B P_loss_phen : Intellectual developmental disorder, AD, FRA12A type, 136630 (3) AD P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Intellectual_disability,_FRA12A_type |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
P2RX4Gene_name : P2RX4; LOEUF_bin : 7 GnomAD_pLI : 4.9835e-12 ExAC_pLI : 2.3680e-09 HI : . TS : . DDD_HI_percent : 47.78 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.32758278656826 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.786763539527925 ExAC_misZ : 0.927751650031918 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5025 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001256796 Tx_version : 2 Tx_start : 121210128 Tx_end : 121234106 Exon_count : 13 Overlapped_tx_length : 23978 Overlapped_CDS_length : 1215 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121210128 Intersect_end : 121234106 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.5255Exomiser_gene_pheno_score : 0.5255 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal clavicle morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATF7Gene_name : ATF7; LOEUF_bin : 0 GnomAD_pLI : 9.9840e-01 ExAC_pLI : 9.8331e-01 HI : . TS : . DDD_HI_percent : 17 ACMG : . ExAC_cnvZ : 0.988425751418793 ExAC_delZ : 0.512590749342486 ExAC_dupZ : 0.880534217663937 ExAC_synZ : 0.928526121716132 ExAC_misZ : 1.58756904974958 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11016 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001366555 Tx_version : 2 Tx_start : 53512053 Tx_end : 53626382 Exon_count : 12 Overlapped_tx_length : 114329 Overlapped_CDS_length : 1485 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53512053 Intersect_end : 53626382 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4329Exomiser_gene_pheno_score : 0.4329 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KDM2BGene_name : KDM2B; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9979e-01 HI : . TS : . DDD_HI_percent : 18.62 ACMG : . ExAC_cnvZ : 0.646283591236148 ExAC_delZ : 1.0071198646253 ExAC_dupZ : 0.309186802863942 ExAC_synZ : 0.335932104042547 ExAC_misZ : 4.69330567868618 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84678 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_011538867 Tx_version : 4 Tx_start : 121408460 Tx_end : 121581023 Exon_count : 24 Overlapped_tx_length : 172563 Overlapped_CDS_length : 4200 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121408460 Intersect_end : 121581023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4267Exomiser_gene_pheno_score : 0.4267 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal optic fissure closure; curly tail Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CBX5Gene_name : CBX5; LOEUF_bin : 1 GnomAD_pLI : 9.3174e-01 ExAC_pLI : 8.3500e-01 HI : . TS : . DDD_HI_percent : 3.41 ACMG : . ExAC_cnvZ : 1.56972523683598 ExAC_delZ : 1.1738932102683 ExAC_dupZ : 1.30150967753185 ExAC_synZ : 0.178976228338169 ExAC_misZ : 2.3812255602979 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23468 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_012117 Tx_version : 3 Tx_start : 54230941 Tx_end : 54280122 Exon_count : 5 Overlapped_tx_length : 49181 Overlapped_CDS_length : 576 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54230941 Intersect_end : 54280122 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4402Exomiser_gene_pheno_score : 0.4402 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; vertebral fusion Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
EPYCGene_name : EPYC; LOEUF_bin : 7 GnomAD_pLI : 5.7495e-07 ExAC_pLI : 5.0530e-05 HI : . TS : . DDD_HI_percent : 39.88 ACMG : . ExAC_cnvZ : -0.135276961206832 ExAC_delZ : 0.325665448734463 ExAC_dupZ : -0.395087338884113 ExAC_synZ : -0.343696859541819 ExAC_misZ : -1.52875784554945 GenCC_disease : schizophrenia GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : . NCBI_gene_ID : 1833 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_004950 Tx_version : 5 Tx_start : 90963681 Tx_end : 91004972 Exon_count : 7 Overlapped_tx_length : 41291 Overlapped_CDS_length : 969 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 90963681 Intersect_end : 91004972 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.5230Exomiser_gene_pheno_score : 0.5230 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; osteoarthritis; short femur Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GRIP1Gene_name : GRIP1; LOEUF_bin : 1 GnomAD_pLI : 5.0828e-01 ExAC_pLI : 9.1689e-01 HI : 30 TS : 0 DDD_HI_percent : 18.89 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.488878706386733 ExAC_misZ : 1.36280585419541 GenCC_disease : Fraser syndrome; Fraser syndrome 1; Fraser syndrome 3 GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 22510445; 22510445[PMID]; 24357607 NCBI_gene_ID : 23426 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : XM_017019098 Tx_version : 2 Tx_start : 66347430 Tx_end : 66646371 Exon_count : 24 Overlapped_tx_length : 298941 Overlapped_CDS_length : 3567 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66347430 Intersect_end : 66646371 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.1 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
5P_snvindel_nb : 5 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PRDM4Gene_name : PRDM4; LOEUF_bin : 3 GnomAD_pLI : 1.3238e-03 ExAC_pLI : 8.3320e-01 HI : . TS : . DDD_HI_percent : 22.96 ACMG : . ExAC_cnvZ : 0.648096249745296 ExAC_delZ : -0.211307468241903 ExAC_dupZ : 1.06067237466584 ExAC_synZ : 0.594104747733075 ExAC_misZ : 0.466276305291711 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11108 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : XM_005268593 Tx_version : 2 Tx_start : 107732870 Tx_end : 107761137 Exon_count : 12 Overlapped_tx_length : 28267 Overlapped_CDS_length : 2427 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107732870 Intersect_end : 107761137 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4552Exomiser_gene_pheno_score : 0.4552 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; microphthalmia; short tibia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NACAGene_name : NACA; LOEUF_bin : 3 GnomAD_pLI : 4.7299e-05 ExAC_pLI : 2.0338e-02 HI : . TS : . DDD_HI_percent : 13.41 ACMG : . ExAC_cnvZ : 0.887824107844423 ExAC_delZ : 0.455675322914286 ExAC_dupZ : 0.757373369747492 ExAC_synZ : -1.12876954269789 ExAC_misZ : -0.193588763941153 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4666 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001365896 Tx_version : 1 Tx_start : 56712426 Tx_end : 56725299 Exon_count : 9 Overlapped_tx_length : 12873 Overlapped_CDS_length : 6237 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56712426 Intersect_end : 56725299 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4473Exomiser_gene_pheno_score : 0.4473 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal bone mineralization Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SARNPGene_name : SARNP; LOEUF_bin : 0 GnomAD_pLI : 9.9574e-01 ExAC_pLI : 9.8907e-01 HI : . TS : . DDD_HI_percent : 12.95 ACMG : . ExAC_cnvZ : 1.29610593009206 ExAC_delZ : 0.84924851374516 ExAC_dupZ : 1.09814540075417 ExAC_synZ : 0.0972669153041625 ExAC_misZ : 0.991461872302329 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84324 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_033082 Tx_version : 4 Tx_start : 55757269 Tx_end : 55817724 Exon_count : 11 Overlapped_tx_length : 60455 Overlapped_CDS_length : 633 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55757269 Intersect_end : 55817724 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4077Exomiser_gene_pheno_score : 0.4077 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MLECGene_name : MLEC; LOEUF_bin : 2 GnomAD_pLI : 6.0716e-01 ExAC_pLI : 4.7092e-01 HI : . TS : . DDD_HI_percent : 20.42 ACMG : . ExAC_cnvZ : 1.17786497008338 ExAC_delZ : 0.87905277003469 ExAC_dupZ : 1.17600033516434 ExAC_synZ : 1.07062118835982 ExAC_misZ : 3.16612678511578 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9761 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_014730 Tx_version : 4 Tx_start : 120687148 Tx_end : 120701859 Exon_count : 5 Overlapped_tx_length : 14711 Overlapped_CDS_length : 879 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120687148 Intersect_end : 120701859 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4267Exomiser_gene_pheno_score : 0.4267 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NFE2Gene_name : NFE2; LOEUF_bin : 2 GnomAD_pLI : 6.6693e-01 ExAC_pLI : 6.8891e-01 HI : . TS : . DDD_HI_percent : 32.6 ACMG : . ExAC_cnvZ : 0.706124397647518 ExAC_delZ : 0.283882041532514 ExAC_dupZ : 0.625172341042784 ExAC_synZ : -0.385416103089614 ExAC_misZ : 1.63540225670932 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4778 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001136023 Tx_version : 3 Tx_start : 54292110 Tx_end : 54301015 Exon_count : 3 Overlapped_tx_length : 8905 Overlapped_CDS_length : 1122 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54292110 Intersect_end : 54301015 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4258Exomiser_gene_pheno_score : 0.4258 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone ossification Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MSI1Gene_name : MSI1; LOEUF_bin : 0 GnomAD_pLI : 9.9357e-01 ExAC_pLI : 9.9715e-01 HI : . TS : . DDD_HI_percent : 34.72 ACMG : . ExAC_cnvZ : 0.483285467504029 ExAC_delZ : 0.84764370443777 ExAC_dupZ : 0.16632841324523 ExAC_synZ : 0.411402096561841 ExAC_misZ : 3.01692226149236 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4440 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_011538361 Tx_version : 4 Tx_start : 120339661 Tx_end : 120369164 Exon_count : 15 Overlapped_tx_length : 29503 Overlapped_CDS_length : 1089 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120339661 Intersect_end : 120369164 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4050Exomiser_gene_pheno_score : 0.4050 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal neurocranium morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MIPGene_name : MIP; LOEUF_bin : 4 GnomAD_pLI : 3.0956e-02 ExAC_pLI : 6.7791e-01 HI : . TS : . DDD_HI_percent : 27.11 ACMG : . ExAC_cnvZ : 0.659956465505639 ExAC_delZ : 0.525594641709002 ExAC_dupZ : 0.479517348484869 ExAC_synZ : 0.549274498672663 ExAC_misZ : 1.27126041275793 GenCC_disease : cataract 15 multiple types; cerulean cataract; early-onset lamellar cataract; early-onset nuclear cataract; early-onset posterior polar cataract; early-onset sutural cataract; total early-onset cataract GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 10802646; 10937580; 11001937; 16564824; 17893667[PMID]; 20361015[PMID]_24405844[PMID]; 21245956[PMID]_21647270[PMID]_24384146[PMID]; 21850180[PMID]; 23116563[PMID]; 23508780; 24405844; 25803033; 25803033[PMID]; 27456987; 36734406; 8563764 NCBI_gene_ID : 727764 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_012064 Tx_version : 4 Tx_start : 56449501 Tx_end : 56454657 Exon_count : 4 Overlapped_tx_length : 5156 Overlapped_CDS_length : 792 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56449501 Intersect_end : 56454657 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.11 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
9P_snvindel_nb : 9 P_snvindel_phen : Cataract_15_multiple_types; Developmental_cataract; MIP-related_condition; Persistent_hyperplastic_primary_vitreous |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NAV3Gene_name : NAV3; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 20.95 ACMG : . ExAC_cnvZ : 1.66861247456997 ExAC_delZ : 1.00648195917251 ExAC_dupZ : 1.70987050221874 ExAC_synZ : -1.3848688190077 ExAC_misZ : 0.345681334204511 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 89795 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_001024383 Tx_version : 2 Tx_start : 77830893 Tx_end : 78213010 Exon_count : 40 Overlapped_tx_length : 382117 Overlapped_CDS_length : 7158 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 77830893 Intersect_end : 78213010 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4000Exomiser_gene_pheno_score : 0.4000 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC4A8Gene_name : SLC4A8; LOEUF_bin : 0 GnomAD_pLI : 9.9849e-01 ExAC_pLI : 9.9987e-01 HI : . TS : . DDD_HI_percent : 29.29 ACMG : . ExAC_cnvZ : 1.81475038330455 ExAC_delZ : 1.17187531009482 ExAC_dupZ : 1.83044712798202 ExAC_synZ : -0.154140163825695 ExAC_misZ : 3.76699032819653 GenCC_disease : schizophrenia GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 23042115 NCBI_gene_ID : 9498 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_011539010 Tx_version : 2 Tx_start : 51424830 Tx_end : 51515763 Exon_count : 26 Overlapped_tx_length : 90933 Overlapped_CDS_length : 3336 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51424830 Intersect_end : 51515763 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4000Exomiser_gene_pheno_score : 0.4000 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ANKRD13AGene_name : ANKRD13A; LOEUF_bin : 2 GnomAD_pLI : 2.0646e-04 ExAC_pLI : 3.5062e-01 HI : . TS : . DDD_HI_percent : 39.94 ACMG : . ExAC_cnvZ : 1.24054897764707 ExAC_delZ : 0.583864762776861 ExAC_dupZ : 1.31708639721321 ExAC_synZ : 0.401897804036829 ExAC_misZ : 0.80003400618294 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 88455 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_005253980 Tx_version : 4 Tx_start : 109999429 Tx_end : 110039763 Exon_count : 15 Overlapped_tx_length : 40334 Overlapped_CDS_length : 1776 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109999429 Intersect_end : 110039763 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4213Exomiser_gene_pheno_score : 0.4213 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; vertebral fusion Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OS9Gene_name : OS9; LOEUF_bin : 4 GnomAD_pLI : 2.8559e-09 ExAC_pLI : 1.1315e-07 HI : . TS : . DDD_HI_percent : 40.76 ACMG : . ExAC_cnvZ : 0.11167527266014 ExAC_delZ : 0.88767838988649 ExAC_dupZ : -0.293645791008266 ExAC_synZ : 0.766975465607729 ExAC_misZ : 0.969493795160673 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10956 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3-q14.1 Location2 : 5'UTR-3'UTR Tx : NM_001410980 Tx_version : 1 Tx_start : 57694131 Tx_end : 57721557 Exon_count : 15 Overlapped_tx_length : 27426 Overlapped_CDS_length : 2007 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57694131 Intersect_end : 57721557 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4463Exomiser_gene_pheno_score : 0.4463 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; vertebral fusion Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RIC8BGene_name : RIC8B; LOEUF_bin : 0 GnomAD_pLI : 9.9892e-01 ExAC_pLI : 9.9749e-01 HI : . TS : . DDD_HI_percent : 7.79 ACMG : . ExAC_cnvZ : 0.740741373627318 ExAC_delZ : 0.608129148667961 ExAC_dupZ : 0.531272607490679 ExAC_synZ : 0.97233797680883 ExAC_misZ : 2.18915336596037 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55188 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001330145 Tx_version : 2 Tx_start : 106774681 Tx_end : 106889316 Exon_count : 10 Overlapped_tx_length : 114635 Overlapped_CDS_length : 1683 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106774681 Intersect_end : 106889316 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3994Exomiser_gene_pheno_score : 0.3994 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; corneal opacity Fish_pheno_evidence : Craniosynostosis; head circular, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RPL6Gene_name : RPL6; LOEUF_bin : 0 GnomAD_pLI : 9.9326e-01 ExAC_pLI : 9.8829e-01 HI : . TS : . DDD_HI_percent : 53.34 ACMG : . ExAC_cnvZ : 0.853065915351157 ExAC_delZ : 0.389780349243269 ExAC_dupZ : 0.745040935846092 ExAC_synZ : 0.783626747743737 ExAC_misZ : 2.4167868364062 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6128 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : XM_047429302 Tx_version : 1 Tx_start : 112405180 Tx_end : 112418835 Exon_count : 10 Overlapped_tx_length : 13655 Overlapped_CDS_length : 867 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112405180 Intersect_end : 112418835 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3994Exomiser_gene_pheno_score : 0.3994 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : Craniosynostosis; head circular, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATF1Gene_name : ATF1; LOEUF_bin : 2 GnomAD_pLI : 6.3426e-01 ExAC_pLI : 6.6383e-01 HI : . TS : . DDD_HI_percent : 19.6 ACMG : . ExAC_cnvZ : 1.02155070546731 ExAC_delZ : 0.36295311093183 ExAC_dupZ : 1.1652475912027 ExAC_synZ : -0.592478761737635 ExAC_misZ : 0.775133525194193 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 466 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_047428878 Tx_version : 1 Tx_start : 50791536 Tx_end : 50821162 Exon_count : 6 Overlapped_tx_length : 29626 Overlapped_CDS_length : 918 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50791536 Intersect_end : 50821162 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4212Exomiser_gene_pheno_score : 0.4212 Human_pheno_evidence : Adducted thumb; Brachydactyly; Hirschsprung disease Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
UBE2NGene_name : UBE2N; LOEUF_bin : 2 GnomAD_pLI : 8.8156e-01 ExAC_pLI : 7.8772e-01 HI : . TS : . DDD_HI_percent : 1.56 ACMG : . ExAC_cnvZ : 0.436854289180072 ExAC_delZ : 0.295419193824782 ExAC_dupZ : 0.287816169923455 ExAC_synZ : 0.454977494271898 ExAC_misZ : 3.1920362407798 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7334 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_003348 Tx_version : 4 Tx_start : 93405683 Tx_end : 93441947 Exon_count : 4 Overlapped_tx_length : 36264 Overlapped_CDS_length : 459 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93405683 Intersect_end : 93441947 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4165Exomiser_gene_pheno_score : 0.4165 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal joint morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC48A1Gene_name : SLC48A1; LOEUF_bin : 3 GnomAD_pLI : 7.3420e-01 ExAC_pLI : 4.3751e-01 HI : . TS : . DDD_HI_percent : 44.96 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.707268915077168 ExAC_misZ : 0.904855128088624 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55652 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_047429134 Tx_version : 1 Tx_start : 47753933 Tx_end : 47782751 Exon_count : 6 Overlapped_tx_length : 28818 Overlapped_CDS_length : 555 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47753933 Intersect_end : 47782751 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4267Exomiser_gene_pheno_score : 0.4267 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RAB35Gene_name : RAB35; LOEUF_bin : 0 GnomAD_pLI : 9.7845e-01 ExAC_pLI : 9.7978e-01 HI : . TS : . DDD_HI_percent : 29.36 ACMG : . ExAC_cnvZ : 0.443326569320609 ExAC_delZ : 0.291794873608758 ExAC_dupZ : 0.312084324130249 ExAC_synZ : 0.131189236362948 ExAC_misZ : 3.07755773197893 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11021 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_006861 Tx_version : 7 Tx_start : 120095098 Tx_end : 120116753 Exon_count : 6 Overlapped_tx_length : 21655 Overlapped_CDS_length : 606 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120095098 Intersect_end : 120116753 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3872Exomiser_gene_pheno_score : 0.3872 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ANKRD52Gene_name : ANKRD52; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9999e-01 HI : . TS : . DDD_HI_percent : 32.09 ACMG : . ExAC_cnvZ : 1.21566863620043 ExAC_delZ : 1.05038834946105 ExAC_dupZ : 0.981781281466233 ExAC_synZ : 0.274519989307373 ExAC_misZ : 4.68529592258787 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283373 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_173595 Tx_version : 4 Tx_start : 56237806 Tx_end : 56258384 Exon_count : 28 Overlapped_tx_length : 20578 Overlapped_CDS_length : 3231 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56237806 Intersect_end : 56258384 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3872Exomiser_gene_pheno_score : 0.3872 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; anophthalmia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RAB3IPGene_name : RAB3IP; LOEUF_bin : 4 GnomAD_pLI : 1.6698e-08 ExAC_pLI : 1.6753e-02 HI : . TS : . DDD_HI_percent : 22.28 ACMG : . ExAC_cnvZ : 0.400061048263209 ExAC_delZ : -0.193364433959169 ExAC_dupZ : 0.656299210953793 ExAC_synZ : -0.492594893410262 ExAC_misZ : -0.35653761399856 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 117177 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : XM_006719226 Tx_version : 4 Tx_start : 69738263 Tx_end : 69823204 Exon_count : 11 Overlapped_tx_length : 84941 Overlapped_CDS_length : 1533 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69738263 Intersect_end : 69823204 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4327Exomiser_gene_pheno_score : 0.4327 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PEBP1Gene_name : PEBP1; LOEUF_bin : 4 GnomAD_pLI : 9.1670e-02 ExAC_pLI : 1.4886e-01 HI : . TS : . DDD_HI_percent : 40.61 ACMG : . ExAC_cnvZ : 0.813616537821576 ExAC_delZ : 0.337277740360194 ExAC_dupZ : 0.729578773729111 ExAC_synZ : -0.342164655268071 ExAC_misZ : 0.3847845329974 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5037 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_002567 Tx_version : 4 Tx_start : 118136123 Tx_end : 118145584 Exon_count : 4 Overlapped_tx_length : 9461 Overlapped_CDS_length : 564 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118136123 Intersect_end : 118145584 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4319Exomiser_gene_pheno_score : 0.4319 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCDC92Gene_name : CCDC92; LOEUF_bin : 3 GnomAD_pLI : 2.9985e-01 ExAC_pLI : 3.6885e-01 HI : . TS : . DDD_HI_percent : 68.78 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.214383604989535 ExAC_misZ : 0.863475801773479 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80212 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001304957 Tx_version : 2 Tx_start : 123935625 Tx_end : 123972831 Exon_count : 5 Overlapped_tx_length : 37206 Overlapped_CDS_length : 996 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123935625 Intersect_end : 123972831 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4187Exomiser_gene_pheno_score : 0.4187 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LETMD1Gene_name : LETMD1; LOEUF_bin : 3 GnomAD_pLI : 4.8505e-02 ExAC_pLI : 7.9386e-01 HI : . TS : . DDD_HI_percent : 51.09 ACMG : . ExAC_cnvZ : -0.100554658951515 ExAC_delZ : -0.0622232043051011 ExAC_dupZ : -0.147185857696405 ExAC_synZ : -1.43528982046336 ExAC_misZ : 0.602017842531281 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 25875 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001243689 Tx_version : 2 Tx_start : 51048326 Tx_end : 51060424 Exon_count : 9 Overlapped_tx_length : 12098 Overlapped_CDS_length : 1122 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51048326 Intersect_end : 51060424 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4187Exomiser_gene_pheno_score : 0.4187 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NTN4Gene_name : NTN4; LOEUF_bin : 1 GnomAD_pLI : 9.1585e-01 ExAC_pLI : 9.9443e-01 HI : . TS : . DDD_HI_percent : 26.83 ACMG : . ExAC_cnvZ : 0.707254127387719 ExAC_delZ : 0.851030672615135 ExAC_dupZ : 0.446078952248777 ExAC_synZ : -0.10226898345785 ExAC_misZ : 1.40364469306428 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8079 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_021229 Tx_version : 4 Tx_start : 95657806 Tx_end : 95790764 Exon_count : 10 Overlapped_tx_length : 132958 Overlapped_CDS_length : 1887 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95657806 Intersect_end : 95790764 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3889Exomiser_gene_pheno_score : 0.3889 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye physiology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SPRYD3Gene_name : SPRYD3; LOEUF_bin : 2 GnomAD_pLI : 1.4961e-01 ExAC_pLI : 9.4694e-01 HI : . TS : . DDD_HI_percent : 32.35 ACMG : . ExAC_cnvZ : 0.337657137932709 ExAC_delZ : 0.700754113194752 ExAC_dupZ : 0.0412162664911047 ExAC_synZ : 0.26233923505515 ExAC_misZ : 3.00007504095374 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84926 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_032840 Tx_version : 3 Tx_start : 53064315 Tx_end : 53079390 Exon_count : 11 Overlapped_tx_length : 15075 Overlapped_CDS_length : 1329 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53064315 Intersect_end : 53079390 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4013Exomiser_gene_pheno_score : 0.4013 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PRKAB1Gene_name : PRKAB1; LOEUF_bin : 4 GnomAD_pLI : 5.2573e-03 ExAC_pLI : 5.1879e-02 HI : . TS : . DDD_HI_percent : 30.01 ACMG : . ExAC_cnvZ : 0.835580549439664 ExAC_delZ : 0.688613237731649 ExAC_dupZ : 0.62374233990552 ExAC_synZ : 0.777327174098465 ExAC_misZ : 0.906170394712761 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5564 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : XM_005253909 Tx_version : 2 Tx_start : 119667951 Tx_end : 119681619 Exon_count : 8 Overlapped_tx_length : 13668 Overlapped_CDS_length : 813 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119667951 Intersect_end : 119681619 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4267Exomiser_gene_pheno_score : 0.4267 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MDM1Gene_name : MDM1; LOEUF_bin : 4 GnomAD_pLI : 4.7231e-12 ExAC_pLI : 5.7829e-08 HI : . TS : . DDD_HI_percent : 63.86 ACMG : . ExAC_cnvZ : 0.386919367734289 ExAC_delZ : 0.00434039285028253 ExAC_dupZ : 0.506541443110095 ExAC_synZ : -0.508675471280761 ExAC_misZ : -1.14327518717422 GenCC_disease : schizophrenia GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : . NCBI_gene_ID : 56890 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_001354969 Tx_version : 2 Tx_start : 68294565 Tx_end : 68332362 Exon_count : 15 Overlapped_tx_length : 37797 Overlapped_CDS_length : 2175 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68294565 Intersect_end : 68332362 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4207Exomiser_gene_pheno_score : 0.4207 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal cone electrophysiology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CERS5Gene_name : CERS5; LOEUF_bin : 5 GnomAD_pLI : 6.4962e-09 ExAC_pLI : 1.3107e-05 HI : . TS : . DDD_HI_percent : 37.54 ACMG : . ExAC_cnvZ : 0.979691956576779 ExAC_delZ : 1.38665625548894 ExAC_dupZ : 0.570935691504473 ExAC_synZ : 1.513980315882 ExAC_misZ : 1.20885723311976 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 91012 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_005269220 Tx_version : 3 Tx_start : 50129288 Tx_end : 50167369 Exon_count : 10 Overlapped_tx_length : 38081 Overlapped_CDS_length : 1230 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50129288 Intersect_end : 50167369 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4327Exomiser_gene_pheno_score : 0.4327 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FOXN4Gene_name : FOXN4; LOEUF_bin : 1 GnomAD_pLI : 8.6055e-01 ExAC_pLI : 1.3306e-01 HI : . TS : . DDD_HI_percent : 57.39 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.0584374882883324 ExAC_misZ : 0.100463908572468 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121643 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_011537922 Tx_version : 3 Tx_start : 109277977 Tx_end : 109309284 Exon_count : 10 Overlapped_tx_length : 31307 Overlapped_CDS_length : 1557 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109277977 Intersect_end : 109309284 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3767Exomiser_gene_pheno_score : 0.3767 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal retina neuronal layer morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SP1Gene_name : SP1; LOEUF_bin : 0 GnomAD_pLI : 9.9997e-01 ExAC_pLI : 9.9764e-01 HI : . TS : . DDD_HI_percent : 0.82 ACMG : . ExAC_cnvZ : 0.528079902013746 ExAC_delZ : 0.394398097760484 ExAC_dupZ : 0.366644295592429 ExAC_synZ : -2.50900068021098 ExAC_misZ : 0.799661392893579 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6667 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_138473 Tx_version : 3 Tx_start : 53380175 Tx_end : 53416446 Exon_count : 6 Overlapped_tx_length : 36271 Overlapped_CDS_length : 2358 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53380175 Intersect_end : 53416446 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3688Exomiser_gene_pheno_score : 0.3688 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; anophthalmia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CNPY2Gene_name : CNPY2; LOEUF_bin : 5 GnomAD_pLI : 2.9232e-03 ExAC_pLI : 3.0095e-02 HI : . TS : . DDD_HI_percent : 19.06 ACMG : . ExAC_cnvZ : 0.116500426013103 ExAC_delZ : -0.695034568928692 ExAC_dupZ : 0.627953883887315 ExAC_synZ : 0.795857236881887 ExAC_misZ : 0.87195508857083 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10330 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_014255 Tx_version : 7 Tx_start : 56309843 Tx_end : 56315988 Exon_count : 6 Overlapped_tx_length : 6145 Overlapped_CDS_length : 549 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56309843 Intersect_end : 56315988 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4328Exomiser_gene_pheno_score : 0.4328 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal joint morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
WSB2Gene_name : WSB2; LOEUF_bin : 1 GnomAD_pLI : 9.2938e-01 ExAC_pLI : 5.0322e-01 HI : . TS : . DDD_HI_percent : 21.22 ACMG : . ExAC_cnvZ : 0.120476606006005 ExAC_delZ : 0.921684514631708 ExAC_dupZ : -0.303421531600562 ExAC_synZ : -0.765705861965643 ExAC_misZ : 2.2136432325395 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55884 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_001278557 Tx_version : 1 Tx_start : 118032686 Tx_end : 118062174 Exon_count : 9 Overlapped_tx_length : 29488 Overlapped_CDS_length : 1266 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118032686 Intersect_end : 118062174 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3804Exomiser_gene_pheno_score : 0.3804 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal tooth morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SRRM4Gene_name : SRRM4; LOEUF_bin : 1 GnomAD_pLI : 4.6456e-01 ExAC_pLI : 4.1175e-01 HI : . TS : . DDD_HI_percent : 40.85 ACMG : . ExAC_cnvZ : 0.0445111619136791 ExAC_delZ : 0.398590229680274 ExAC_dupZ : -0.171656946051384 ExAC_synZ : -0.161468392112533 ExAC_misZ : 0.844529038971192 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84530 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_194286 Tx_version : 4 Tx_start : 118981540 Tx_end : 119163051 Exon_count : 13 Overlapped_tx_length : 181511 Overlapped_CDS_length : 1836 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118981540 Intersect_end : 119163051 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3776Exomiser_gene_pheno_score : 0.3776 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal crista ampullaris morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SPPL3Gene_name : SPPL3; LOEUF_bin : 0 GnomAD_pLI : 9.9656e-01 ExAC_pLI : 9.0779e-01 HI : . TS : . DDD_HI_percent : 15.17 ACMG : . ExAC_cnvZ : 0.171935192534646 ExAC_delZ : 0.00120728308462356 ExAC_dupZ : 0.185252828195452 ExAC_synZ : -0.569889453242568 ExAC_misZ : 3.30628515860837 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121665 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_139015 Tx_version : 5 Tx_start : 120762509 Tx_end : 120904358 Exon_count : 11 Overlapped_tx_length : 141849 Overlapped_CDS_length : 1155 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120762509 Intersect_end : 120904358 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3644Exomiser_gene_pheno_score : 0.3644 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; microphthalmia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CAND1Gene_name : CAND1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9993e-01 HI : . TS : . DDD_HI_percent : 18.18 ACMG : . ExAC_cnvZ : 0.551262675816201 ExAC_delZ : 0.95540068679627 ExAC_dupZ : 0.169221154323347 ExAC_synZ : -1.42859875172419 ExAC_misZ : 4.14995912478083 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55832 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3-q15 Location2 : 5'UTR-3'UTR Tx : NM_018448 Tx_version : 5 Tx_start : 67269357 Tx_end : 67319953 Exon_count : 15 Overlapped_tx_length : 50596 Overlapped_CDS_length : 3693 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67269357 Intersect_end : 67319953 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3644Exomiser_gene_pheno_score : 0.3644 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; microphthalmia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:67262967-67357107 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RFC5Gene_name : RFC5; LOEUF_bin : 4 GnomAD_pLI : 5.0356e-04 ExAC_pLI : 1.4710e-02 HI : . TS : . DDD_HI_percent : 8.48 ACMG : . ExAC_cnvZ : -0.0313964345635402 ExAC_delZ : 0.941527011151977 ExAC_dupZ : -0.498899025188632 ExAC_synZ : 0.220683115235961 ExAC_misZ : 1.38301687047701 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5985 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_007370 Tx_version : 7 Tx_start : 118016702 Tx_end : 118032234 Exon_count : 11 Overlapped_tx_length : 15532 Overlapped_CDS_length : 1023 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118016702 Intersect_end : 118032234 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4152Exomiser_gene_pheno_score : 0.4152 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : Craniosynostosis; head pointed, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ARF3Gene_name : ARF3; LOEUF_bin : 3 GnomAD_pLI : 3.5273e-01 ExAC_pLI : 6.2273e-01 HI : . TS : . DDD_HI_percent : 7.96 ACMG : . ExAC_cnvZ : 0.820700913463533 ExAC_delZ : 0.694414322122581 ExAC_dupZ : 0.730813824258431 ExAC_synZ : 0.123313141713274 ExAC_misZ : 3.088726881946 GenCC_disease : complex neurodevelopmental disorder GenCC_moi : AD GenCC_classification : Strong GenCC_pmid : . NCBI_gene_ID : 377 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001412914 Tx_version : 1 Tx_start : 48935722 Tx_end : 48957487 Exon_count : 6 Overlapped_tx_length : 21765 Overlapped_CDS_length : 546 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48935722 Intersect_end : 48957487 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4060Exomiser_gene_pheno_score : 0.4060 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
4P_snvindel_nb : 4 P_snvindel_phen : Abnormality_of_the_dentition; Atrophy/Degeneration_affecting_the_central_nervous_system; Autism; Bifid_uvula; Clinodactyly; Delayed_early-childhood_social_milestone_development; Delayed_speech_and_language_development; Dystonic_disorder; Global_developmental_delay; Heart,_malformation_of; Hypotonia; Intellectual_disability; Kyphosis; Long_ear; Long_neck; Microcephaly; Motor_delay; Neurodevelopmental_delay; Pectus_excavatum; Scoliosis; Seizure; Self-injurious_behavior |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SNRPFGene_name : SNRPF; LOEUF_bin : 2 GnomAD_pLI : 7.9498e-01 ExAC_pLI : 7.3466e-01 HI : . TS : . DDD_HI_percent : 8.96 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.280643577833929 ExAC_misZ : 1.62061394582131 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6636 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_003095 Tx_version : 5 Tx_start : 95858951 Tx_end : 95866140 Exon_count : 4 Overlapped_tx_length : 7189 Overlapped_CDS_length : 261 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95858951 Intersect_end : 95866140 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3950Exomiser_gene_pheno_score : 0.3950 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : Craniosynostosis; head flat, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SUDS3Gene_name : SUDS3; LOEUF_bin : 3 GnomAD_pLI : 4.5448e-03 ExAC_pLI : 7.5961e-03 HI : . TS : . DDD_HI_percent : 22.11 ACMG : . ExAC_cnvZ : 0.507983669649188 ExAC_delZ : 0.0905927321014906 ExAC_dupZ : 0.588598432568505 ExAC_synZ : 0.522251635203125 ExAC_misZ : 1.61376693583277 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64426 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_022491 Tx_version : 3 Tx_start : 118376554 Tx_end : 118418033 Exon_count : 12 Overlapped_tx_length : 41479 Overlapped_CDS_length : 987 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118376554 Intersect_end : 118418033 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3994Exomiser_gene_pheno_score : 0.3994 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : Craniosynostosis; head circular, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TDGGene_name : TDG; LOEUF_bin : 3 GnomAD_pLI : 5.6268e-04 ExAC_pLI : 9.2235e-04 HI : . TS : . DDD_HI_percent : 23.52 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.08780126319124 ExAC_misZ : 1.74840263651351 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6996 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_003211 Tx_version : 6 Tx_start : 103965871 Tx_end : 103988874 Exon_count : 10 Overlapped_tx_length : 23003 Overlapped_CDS_length : 1233 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103965871 Intersect_end : 103988874 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3988Exomiser_gene_pheno_score : 0.3988 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal limb development Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ELK3Gene_name : ELK3; LOEUF_bin : 3 GnomAD_pLI : 8.3508e-02 ExAC_pLI : 1.0174e-01 HI : . TS : . DDD_HI_percent : 14.14 ACMG : . ExAC_cnvZ : 0.793947089939442 ExAC_delZ : 0.34099265795374 ExAC_dupZ : 0.701897359606892 ExAC_synZ : -0.283814333687686 ExAC_misZ : 0.562190245816335 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 2004 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001413760 Tx_version : 1 Tx_start : 96194374 Tx_end : 96269824 Exon_count : 6 Overlapped_tx_length : 75450 Overlapped_CDS_length : 1224 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 96194374 Intersect_end : 96269824 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3984Exomiser_gene_pheno_score : 0.3984 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SCAF11Gene_name : SCAF11; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9968e-01 HI : . TS : . DDD_HI_percent : 49.39 ACMG : . ExAC_cnvZ : 1.3353972142302 ExAC_delZ : 0.916680082741035 ExAC_dupZ : 1.10452194779896 ExAC_synZ : -0.679802254310739 ExAC_misZ : -1.43182907466117 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9169 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : XM_005269230 Tx_version : 3 Tx_start : 45919130 Tx_end : 45992059 Exon_count : 15 Overlapped_tx_length : 72929 Overlapped_CDS_length : 4584 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45919130 Intersect_end : 45992059 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3568Exomiser_gene_pheno_score : 0.3568 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal bone structure Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LUMGene_name : LUM; LOEUF_bin : 5 GnomAD_pLI : 7.6960e-02 ExAC_pLI : 1.0192e-01 HI : . TS : . DDD_HI_percent : 10.77 ACMG : . ExAC_cnvZ : 0.247229597350222 ExAC_delZ : 0.441812695427938 ExAC_dupZ : -0.00358396521753357 ExAC_synZ : -0.817517237647838 ExAC_misZ : 0.991894909236812 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4060 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_002345 Tx_version : 4 Tx_start : 91102628 Tx_end : 91111494 Exon_count : 3 Overlapped_tx_length : 8866 Overlapped_CDS_length : 1017 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91102628 Intersect_end : 91111494 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4212Exomiser_gene_pheno_score : 0.4212 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased corneal light-scattering Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
COPZ1Gene_name : COPZ1; LOEUF_bin : 1 GnomAD_pLI : 9.4896e-01 ExAC_pLI : 8.9070e-01 HI : . TS : . DDD_HI_percent : 12.75 ACMG : . ExAC_cnvZ : 0.546927128365517 ExAC_delZ : 1.16144600608896 ExAC_dupZ : 0.109669759613809 ExAC_synZ : 0.190073004335522 ExAC_misZ : 0.88674570280487 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22818 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001271736 Tx_version : 2 Tx_start : 54325130 Tx_end : 54351846 Exon_count : 9 Overlapped_tx_length : 26716 Overlapped_CDS_length : 558 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54325130 Intersect_end : 54351846 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3678Exomiser_gene_pheno_score : 0.3678 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : Craniosynostosis; head decreased width, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TSPAN8Gene_name : TSPAN8; LOEUF_bin : 4 GnomAD_pLI : 5.5131e-03 ExAC_pLI : 8.6947e-03 HI : . TS : . DDD_HI_percent : 73.73 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.113741742397146 ExAC_misZ : -0.325544420142966 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7103 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_004616 Tx_version : 3 Tx_start : 71125095 Tx_end : 71157999 Exon_count : 9 Overlapped_tx_length : 32904 Overlapped_CDS_length : 714 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71125095 Intersect_end : 71157999 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4007Exomiser_gene_pheno_score : 0.4007 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPFIA2Gene_name : PPFIA2; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9998e-01 HI : . TS : . DDD_HI_percent : 16.83 ACMG : . ExAC_cnvZ : -0.198531834395135 ExAC_delZ : -0.980850212524021 ExAC_dupZ : 0.337560851333821 ExAC_synZ : -1.33549315893712 ExAC_misZ : 2.5173351523216 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8499 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : XM_047429770 Tx_version : 1 Tx_start : 81261951 Tx_end : 81759350 Exon_count : 33 Overlapped_tx_length : 497399 Overlapped_CDS_length : 3783 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 81261951 Intersect_end : 81759350 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3473Exomiser_gene_pheno_score : 0.3473 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal retina vasculature morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FBXO21Gene_name : FBXO21; LOEUF_bin : 1 GnomAD_pLI : 9.7537e-01 ExAC_pLI : 9.9063e-01 HI : . TS : . DDD_HI_percent : 37.47 ACMG : . ExAC_cnvZ : 1.15624445926491 ExAC_delZ : 1.03599581103468 ExAC_dupZ : 0.872204491362497 ExAC_synZ : 1.08118057018612 ExAC_misZ : 3.08336849501525 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23014 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : 5'UTR-3'UTR Tx : NM_033624 Tx_version : 3 Tx_start : 117141990 Tx_end : 117190470 Exon_count : 12 Overlapped_tx_length : 48480 Overlapped_CDS_length : 1887 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 117141990 Intersect_end : 117190470 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3644Exomiser_gene_pheno_score : 0.3644 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal cornea morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FAM216AGene_name : FAM216A; LOEUF_bin : 3 GnomAD_pLI : 3.3456e-02 ExAC_pLI : 1.1163e-03 HI : . TS : . DDD_HI_percent : 54.7 ACMG : . ExAC_cnvZ : -0.458376406519496 ExAC_delZ : -0.722934974489254 ExAC_dupZ : -0.286618578052328 ExAC_synZ : 0.236811302974648 ExAC_misZ : -0.387522271688355 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 29902 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_013300 Tx_version : 3 Tx_start : 110468844 Tx_end : 110490385 Exon_count : 7 Overlapped_tx_length : 21541 Overlapped_CDS_length : 822 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110468844 Intersect_end : 110490385 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3872Exomiser_gene_pheno_score : 0.3872 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KCNH3Gene_name : KCNH3; LOEUF_bin : 0 GnomAD_pLI : 9.9919e-01 ExAC_pLI : 9.9989e-01 HI : . TS : . DDD_HI_percent : 36.24 ACMG : . ExAC_cnvZ : 0.946927741360391 ExAC_delZ : 1.08463842994028 ExAC_dupZ : 0.671212613167244 ExAC_synZ : 1.63679641138092 ExAC_misZ : 5.30116676497632 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23416 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_011538085 Tx_version : 3 Tx_start : 49539029 Tx_end : 49558337 Exon_count : 15 Overlapped_tx_length : 19308 Overlapped_CDS_length : 3285 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49539029 Intersect_end : 49558337 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3482Exomiser_gene_pheno_score : 0.3482 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCNT1Gene_name : CCNT1; LOEUF_bin : 2 GnomAD_pLI : 5.1092e-02 ExAC_pLI : 9.9581e-01 HI : . TS : . DDD_HI_percent : 26.38 ACMG : . ExAC_cnvZ : 0.491673067825855 ExAC_delZ : 0.900213362008298 ExAC_dupZ : 0.123253911135359 ExAC_synZ : -0.730685295118149 ExAC_misZ : 1.25388184391734 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 904 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11-q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001240 Tx_version : 4 Tx_start : 48688457 Tx_end : 48716707 Exon_count : 9 Overlapped_tx_length : 28250 Overlapped_CDS_length : 2181 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48688457 Intersect_end : 48716707 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3706Exomiser_gene_pheno_score : 0.3706 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DYNLL1Gene_name : DYNLL1; LOEUF_bin : 4 GnomAD_pLI : 6.9830e-01 ExAC_pLI : 6.9658e-01 HI : . TS : . DDD_HI_percent : 2.46 ACMG : . ExAC_cnvZ : 0.568266087783176 ExAC_delZ : 0.426356658345729 ExAC_dupZ : 0.397502199871508 ExAC_synZ : 1.13503779248953 ExAC_misZ : 2.40794311218952 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8655 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001037494 Tx_version : 2 Tx_start : 120469841 Tx_end : 120498493 Exon_count : 3 Overlapped_tx_length : 28652 Overlapped_CDS_length : 270 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120469841 Intersect_end : 120498493 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4010Exomiser_gene_pheno_score : 0.4010 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; coloboma Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ESYT1Gene_name : ESYT1; LOEUF_bin : 3 GnomAD_pLI : 1.6707e-13 ExAC_pLI : 2.1407e-07 HI : . TS : . DDD_HI_percent : 47.13 ACMG : . ExAC_cnvZ : 0.852088821722998 ExAC_delZ : 0.656814068026027 ExAC_dupZ : 0.813666383496652 ExAC_synZ : 1.30657378890547 ExAC_misZ : 0.864641739218734 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23344 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001184796 Tx_version : 2 Tx_start : 56128266 Tx_end : 56144674 Exon_count : 31 Overlapped_tx_length : 16408 Overlapped_CDS_length : 3345 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56128266 Intersect_end : 56144674 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3850Exomiser_gene_pheno_score : 0.3850 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; sclerocornea Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CITGene_name : CIT; LOEUF_bin : 0 GnomAD_pLI : 9.9970e-01 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 9.65 ACMG : . ExAC_cnvZ : 1.00738639885524 ExAC_delZ : 1.1736013546943 ExAC_dupZ : 0.764781999253212 ExAC_synZ : 0.461846199204778 ExAC_misZ : 4.40981927361563 GenCC_disease : autosomal recessive primary microcephaly; microcephaly 11, primary, autosomal recessive; microcephaly 17, primary, autosomal recessive GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 27453578; 27453578[PMID]; 27453579; 27503289 NCBI_gene_ID : 11113 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : XM_011537783 Tx_version : 2 Tx_start : 119685790 Tx_end : 119877320 Exon_count : 49 Overlapped_tx_length : 191530 Overlapped_CDS_length : 6255 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119685790 Intersect_end : 119877320 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:119685791-119877320P_loss_coord : 12:119685791-119877320 P_loss_source : morbid:CIT P_loss_phen : Microcephaly 17, primary, AR, 617090 (3) AR P_loss_hpo : . |
5P_snvindel_nb : 5 P_snvindel_phen : Inborn_genetic_diseases; Microcephaly_17,_primary,_autosomal_recessive |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ACVR1BGene_name : ACVR1B; LOEUF_bin : 0 GnomAD_pLI : 9.9969e-01 ExAC_pLI : 9.9890e-01 HI : . TS : . DDD_HI_percent : 11.26 ACMG : . ExAC_cnvZ : 1.12072471010748 ExAC_delZ : 0.987999429996775 ExAC_dupZ : 0.892462374322649 ExAC_synZ : 0.505155343695842 ExAC_misZ : 3.89048456318697 GenCC_disease : malignant pancreatic neoplasm GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : . NCBI_gene_ID : 91 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_020328 Tx_version : 4 Tx_start : 51951698 Tx_end : 51997078 Exon_count : 10 Overlapped_tx_length : 45380 Overlapped_CDS_length : 1641 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51951698 Intersect_end : 51997078 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:51971985-51997078P_loss_coord : 12:51971985-51997078 P_loss_source : morbid:ACVR1B P_loss_phen : Pancreatic cancer, somatic, 260350 (3) P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CUX2Gene_name : CUX2; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9966e-01 HI : . TS : . DDD_HI_percent : 20.94 ACMG : . ExAC_cnvZ : 0.981901317645535 ExAC_delZ : 0.301332630690917 ExAC_dupZ : 1.14725328656308 ExAC_synZ : 1.94114415074763 ExAC_misZ : 3.62881131513778 GenCC_disease : Lennox-Gastaut syndrome; developmental and epileptic encephalopathy; developmental and epileptic encephalopathy, 67 GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 23020937; 28628100; 29630738; 29630738[PMID] NCBI_gene_ID : 23316 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11-q24.12 Location2 : 5'UTR-3'UTR Tx : NM_015267 Tx_version : 4 Tx_start : 111034164 Tx_end : 111350554 Exon_count : 22 Overlapped_tx_length : 316390 Overlapped_CDS_length : 4461 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111034164 Intersect_end : 111350554 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.07 |
.RE_gene : . |
12:111100004-111350554P_loss_coord : 12:111100004-111350554 P_loss_source : morbid:CUX2 P_loss_phen : Developmental and epileptic encephalopathy 67, 618141 (3) AD P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : CUX2-related_condition; Developmental_and_epileptic_encephalopathy,_67 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NFYBGene_name : NFYB; LOEUF_bin : 6 GnomAD_pLI : 2.4967e-04 ExAC_pLI : 3.2738e-03 HI : . TS : . DDD_HI_percent : 10.79 ACMG : . ExAC_cnvZ : 0.884206162529591 ExAC_delZ : 0.573251834994403 ExAC_dupZ : 0.881786058528512 ExAC_synZ : -0.32611140125773 ExAC_misZ : 2.12372501165172 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4801 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001414518 Tx_version : 1 Tx_start : 104117085 Tx_end : 104138210 Exon_count : 9 Overlapped_tx_length : 21125 Overlapped_CDS_length : 627 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104117085 Intersect_end : 104138210 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4219Exomiser_gene_pheno_score : 0.4219 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : Craniosynostosis; bone mineralization disrupted, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LHX5Gene_name : LHX5; LOEUF_bin : 1 GnomAD_pLI : 9.4591e-01 ExAC_pLI : 6.9582e-01 HI : . TS : . DDD_HI_percent : 19.23 ACMG : . ExAC_cnvZ : 0.598274553977895 ExAC_delZ : 0.117822080750193 ExAC_dupZ : 0.582418832807439 ExAC_synZ : 3.2671313474293 ExAC_misZ : 4.12735595764288 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64211 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_022363 Tx_version : 3 Tx_start : 113462032 Tx_end : 113471871 Exon_count : 5 Overlapped_tx_length : 9839 Overlapped_CDS_length : 1209 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113462032 Intersect_end : 113471871 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3521Exomiser_gene_pheno_score : 0.3521 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal tooth morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DAZAP2Gene_name : DAZAP2; LOEUF_bin : 3 GnomAD_pLI : 3.6369e-01 ExAC_pLI : 5.2754e-01 HI : . TS : . DDD_HI_percent : 26.5 ACMG : . ExAC_cnvZ : 0.950562296809529 ExAC_delZ : 1.11381402500715 ExAC_dupZ : 0.63626957023716 ExAC_synZ : -0.433264506109168 ExAC_misZ : 1.02570775331212 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9802 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001136266 Tx_version : 2 Tx_start : 51238825 Tx_end : 51243933 Exon_count : 4 Overlapped_tx_length : 5108 Overlapped_CDS_length : 624 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51238825 Intersect_end : 51243933 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3743Exomiser_gene_pheno_score : 0.3743 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CALCOCO1Gene_name : CALCOCO1; LOEUF_bin : 3 GnomAD_pLI : 1.2020e-06 ExAC_pLI : 1.7189e-01 HI : . TS : . DDD_HI_percent : 30.99 ACMG : . ExAC_cnvZ : 0.00656090910837758 ExAC_delZ : -0.0285851465917234 ExAC_dupZ : -0.0055799836230007 ExAC_synZ : -0.429619949934641 ExAC_misZ : 0.364344949552504 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57658 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_011538601 Tx_version : 2 Tx_start : 53708516 Tx_end : 53727452 Exon_count : 16 Overlapped_tx_length : 18936 Overlapped_CDS_length : 2148 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53708516 Intersect_end : 53727452 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3808Exomiser_gene_pheno_score : 0.3808 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; cataract Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NAB2Gene_name : NAB2; LOEUF_bin : 2 GnomAD_pLI : 5.6734e-01 ExAC_pLI : 9.8754e-01 HI : . TS : . DDD_HI_percent : 39.23 ACMG : . ExAC_cnvZ : 0.900345830334386 ExAC_delZ : 0.435023173366433 ExAC_dupZ : 0.810506161322538 ExAC_synZ : -1.64774059831435 ExAC_misZ : 3.64909640132223 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4665 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_005967 Tx_version : 4 Tx_start : 57089113 Tx_end : 57095476 Exon_count : 7 Overlapped_tx_length : 6363 Overlapped_CDS_length : 1578 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57089113 Intersect_end : 57095476 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3644Exomiser_gene_pheno_score : 0.3644 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal cornea morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT80Gene_name : KRT80; LOEUF_bin : 5 GnomAD_pLI : 3.4641e-06 ExAC_pLI : 5.4310e-05 HI : . TS : . DDD_HI_percent : 63.41 ACMG : . ExAC_cnvZ : 0.3783695594494 ExAC_delZ : 0.754204279620845 ExAC_dupZ : 0.116025124594545 ExAC_synZ : -0.175585656188554 ExAC_misZ : -0.309687564288626 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144501 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_005268676 Tx_version : 4 Tx_start : 52168995 Tx_end : 52185749 Exon_count : 7 Overlapped_tx_length : 16754 Overlapped_CDS_length : 1464 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52168995 Intersect_end : 52185749 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3997Exomiser_gene_pheno_score : 0.3997 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; persistence of hyaloid vascular system Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATXN2Gene_name : ATXN2; LOEUF_bin : 1 GnomAD_pLI : 8.5289e-01 ExAC_pLI : 9.9986e-01 HI : . TS : . DDD_HI_percent : 4.16 ACMG : . ExAC_cnvZ : 1.65682542305082 ExAC_delZ : 1.20996384516475 ExAC_dupZ : 1.41321926854445 ExAC_synZ : 1.0016219221687 ExAC_misZ : 2.01107946752925 GenCC_disease : spinocerebellar ataxia type 2 GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 12812977; 8896555; 9158145; NULL NCBI_gene_ID : 6311 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : 5'UTR-3'UTR Tx : NM_001372574 Tx_version : 1 Tx_start : 111452213 Tx_end : 111599315 Exon_count : 25 Overlapped_tx_length : 147102 Overlapped_CDS_length : 3468 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111452213 Intersect_end : 111599315 |
601517; OMIM_ID : 601517; OMIM_phenotype : Spinocerebellar ataxia 2, 183090 (3) AD; (Amyotrophic lateral sclerosis, susceptibility to, 13), 183090 (3) AD; (Parkinson disease, late-onset, susceptibility to), 168600 (3) Multifactorial,AD; OMIM_inheritance : AD; Multifactorial,AD OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TBK1Gene_name : TBK1; LOEUF_bin : 1 GnomAD_pLI : 7.5174e-02 ExAC_pLI : 9.9510e-01 HI : . TS : . DDD_HI_percent : 5.3 ACMG : . ExAC_cnvZ : 0.752534147586323 ExAC_delZ : 0.628206535733443 ExAC_dupZ : 0.626845795303636 ExAC_synZ : -0.462785148532647 ExAC_misZ : 1.29426676768204 GenCC_disease : encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8; frontotemporal dementia and/or amyotrophic lateral sclerosis 4; frontotemporal dementia with motor neuron disease GenCC_moi : AD GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 22851595; 25700176; 25803835; 25803835[PMID]; 26476236; 26513235; 26581300; 30296527 NCBI_gene_ID : 29110 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : 5'UTR-3'UTR Tx : NM_013254 Tx_version : 4 Tx_start : 64452119 Tx_end : 64502114 Exon_count : 21 Overlapped_tx_length : 49995 Overlapped_CDS_length : 2190 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64452119 Intersect_end : 64502114 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:64452120-64502114; 12:64455872-64460349; 1[...]P_loss_coord : 12:64452120-64502114; 12:64455872-64460349; 12:64474231-64501381; 12:64481823-64486037 P_loss_source : dbVar:nssv16207686; dbVar:nssv17971276; dbVar:nssv18790775; morbid:TBK1 P_loss_phen : Frontotemporal dementia and; or amyotrophic lateral sclerosis 4, 616439 (3) AD; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8, 617900 (3) AD P_loss_hpo : . |
37P_snvindel_nb : 37 P_snvindel_phen : Amyotrophic_lateral_sclerosis; Encephalopathy,_acute,_infection-induced_(herpes-specific),_susceptibility_to,_8; Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_4; Herpes_simplex_encephalitis,_susceptibility_to,_1; Motor_neuron_disease; Primary_open_angle_glaucoma; TBK1-related_condition |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
STAT6Gene_name : STAT6; LOEUF_bin : 1 GnomAD_pLI : 9.8849e-01 ExAC_pLI : 1.0077e-01 HI : . TS : . DDD_HI_percent : 9.7 ACMG : . ExAC_cnvZ : 1.17974000489712 ExAC_delZ : 0.49236703146494 ExAC_dupZ : 1.30689916463321 ExAC_synZ : -0.731876459396137 ExAC_misZ : 2.35301689627279 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6778 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001178078 Tx_version : 2 Tx_start : 57095407 Tx_end : 57111362 Exon_count : 22 Overlapped_tx_length : 15955 Overlapped_CDS_length : 2544 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57095407 Intersect_end : 57111362 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:57099996-57111362P_loss_coord : 12:57099996-57111362 P_loss_source : morbid:STAT6 P_loss_phen : Hyper-IgE syndrome 6, AD, with recurrent infections, 620532 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
STAT2Gene_name : STAT2; LOEUF_bin : 1 GnomAD_pLI : 9.3065e-01 ExAC_pLI : 4.1095e-02 HI : . TS : . DDD_HI_percent : 53.02 ACMG : . ExAC_cnvZ : -1.79468085213736 ExAC_delZ : -1.73074436486385 ExAC_dupZ : -2.12231140113626 ExAC_synZ : 0.252414951725747 ExAC_misZ : 1.66092728986058 GenCC_disease : primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection; pseudo-TORCH syndrome 3 GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 23391734; 23391734[PMID]; 26122121; 26408653; 28087227; 31102697; 31836668; 32092142; 36753016 NCBI_gene_ID : 6773 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_011538697 Tx_version : 3 Tx_start : 56341596 Tx_end : 56360107 Exon_count : 24 Overlapped_tx_length : 18511 Overlapped_CDS_length : 2580 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56341596 Intersect_end : 56360107 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:56349169-56360107P_loss_coord : 12:56349169-56360107 P_loss_source : morbid:STAT2 P_loss_phen : Immunodeficiency 44, 616636 (3) AR; Pseudo-TORCH syndrome 3, 618886 (3) AR P_loss_hpo : . |
18P_snvindel_nb : 18 P_snvindel_phen : Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RAP1BGene_name : RAP1B; LOEUF_bin : 1 GnomAD_pLI : 9.0995e-01 ExAC_pLI : 9.3683e-01 HI : . TS : . DDD_HI_percent : 7.01 ACMG : . ExAC_cnvZ : -0.385397985637022 ExAC_delZ : 0.939134669653142 ExAC_dupZ : -0.938929737906776 ExAC_synZ : 0.494449267346323 ExAC_misZ : 3.24385976682154 GenCC_disease : syndromic constitutional thrombocytopenia GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 5908 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_001010942 Tx_version : 3 Tx_start : 68610898 Tx_end : 68671901 Exon_count : 8 Overlapped_tx_length : 61003 Overlapped_CDS_length : 555 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68610898 Intersect_end : 68671901 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:68610899-68671901P_loss_coord : 12:68610899-68671901 P_loss_source : morbid:RAP1B P_loss_phen : Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, 620654 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT76Gene_name : KRT76; LOEUF_bin : 7 GnomAD_pLI : 2.7442e-14 ExAC_pLI : 6.2727e-07 HI : . TS : . DDD_HI_percent : 70.49 ACMG : . ExAC_cnvZ : 1.04896577218691 ExAC_delZ : 0.386815476831752 ExAC_dupZ : 1.1682386889571 ExAC_synZ : -0.909706477377159 ExAC_misZ : -1.32037931600711 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51350 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_015848 Tx_version : 4 Tx_start : 52768154 Tx_end : 52777345 Exon_count : 9 Overlapped_tx_length : 9191 Overlapped_CDS_length : 1917 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52768154 Intersect_end : 52777345 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4263Exomiser_gene_pheno_score : 0.4263 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; increased foot pad pigmentation Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GPR182Gene_name : GPR182; LOEUF_bin : 7 GnomAD_pLI : 1.3704e-04 ExAC_pLI : 8.5970e-04 HI : . TS : . DDD_HI_percent : 74.61 ACMG : . ExAC_cnvZ : 0.940949088426578 ExAC_delZ : 0.629546998956215 ExAC_dupZ : 0.79007955111226 ExAC_synZ : -0.447534390390738 ExAC_misZ : -0.0366206232008982 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11318 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_047428198 Tx_version : 1 Tx_start : 56994491 Tx_end : 56998877 Exon_count : 3 Overlapped_tx_length : 4386 Overlapped_CDS_length : 1215 Overlapped_CDS_percent : 96 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56994491 Intersect_end : 56998877 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4187Exomiser_gene_pheno_score : 0.4187 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
USP15Gene_name : USP15; LOEUF_bin : 0 GnomAD_pLI : 9.9997e-01 ExAC_pLI : 9.9037e-01 HI : . TS : . DDD_HI_percent : 8.46 ACMG : . ExAC_cnvZ : 1.28869108534219 ExAC_delZ : 1.19478043370744 ExAC_dupZ : 0.960717762735593 ExAC_synZ : 0.941763627830022 ExAC_misZ : 3.64032803079031 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9958 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_001252078 Tx_version : 2 Tx_start : 62260403 Tx_end : 62416389 Exon_count : 22 Overlapped_tx_length : 155986 Overlapped_CDS_length : 2946 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62260403 Intersect_end : 62416389 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3308Exomiser_gene_pheno_score : 0.3308 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RBM19Gene_name : RBM19; LOEUF_bin : 3 GnomAD_pLI : 1.7215e-12 ExAC_pLI : 1.6221e-05 HI : . TS : . DDD_HI_percent : 51.03 ACMG : . ExAC_cnvZ : -0.831528921838379 ExAC_delZ : 0.751459651433688 ExAC_dupZ : -1.42287226885955 ExAC_synZ : 0.455566070823369 ExAC_misZ : -0.38133614650864 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9904 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13-q24.21 Location2 : 5'UTR-3'UTR Tx : NM_001146699 Tx_version : 2 Tx_start : 113816739 Tx_end : 113966325 Exon_count : 25 Overlapped_tx_length : 149586 Overlapped_CDS_length : 2883 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113816739 Intersect_end : 113966325 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3678Exomiser_gene_pheno_score : 0.3678 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : Craniosynostosis; head decreased width, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_006836 Tx_version : 2 Tx_start : 120127201 Tx_end : 120194715 Exon_count : 58 Overlapped_tx_length : 67514 Overlapped_CDS_length : 8016 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120127201 Intersect_end : 120194715 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4582Exomiser_gene_pheno_score : 0.4582 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; delayed limb development; exophthalmos Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT18Gene_name : KRT18; LOEUF_bin : 2 GnomAD_pLI : 7.3477e-01 ExAC_pLI : 6.2478e-01 HI : . TS : . DDD_HI_percent : 24.42 ACMG : . ExAC_cnvZ : -2.08591281464869 ExAC_delZ : -1.70705765244577 ExAC_dupZ : -2.35370767181841 ExAC_synZ : 0.293810969850224 ExAC_misZ : 2.35097474085048 GenCC_disease : cirrhosis, familial GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : 8522591 NCBI_gene_ID : 3875 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_199187 Tx_version : 2 Tx_start : 52948854 Tx_end : 52952906 Exon_count : 8 Overlapped_tx_length : 4052 Overlapped_CDS_length : 1293 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52948854 Intersect_end : 52952906 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:52949118-52952906P_loss_coord : 12:52949118-52952906 P_loss_source : morbid:KRT18 P_loss_phen : Cirrhosis, cryptogenic, 215600 (3) AR; Cirrhosis, noncryptogenic, susceptibility to, 215600 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMTC3Gene_name : TMTC3; LOEUF_bin : 2 GnomAD_pLI : 4.6335e-05 ExAC_pLI : 9.0521e-03 HI : . TS : . DDD_HI_percent : 25.62 ACMG : . ExAC_cnvZ : 0.583056317190252 ExAC_delZ : 1.00391066125754 ExAC_dupZ : 0.184043347387934 ExAC_synZ : -0.371260414076339 ExAC_misZ : 1.41025012314675 GenCC_disease : lissencephaly 8; periventricular nodular heterotopia GenCC_moi : AD; AR GenCC_classification : Strong; Supportive GenCC_pmid : 21956870; 27773428; 28973161; 28973161[PMID] NCBI_gene_ID : 160418 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : 5'UTR-3'UTR Tx : NM_181783 Tx_version : 4 Tx_start : 88142306 Tx_end : 88199887 Exon_count : 14 Overlapped_tx_length : 57581 Overlapped_CDS_length : 2745 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88142306 Intersect_end : 88199887 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:88142307-88199887P_loss_coord : 12:88142307-88199887 P_loss_source : morbid:TMTC3 P_loss_phen : Lissencephaly 8, 617255 (3) AR P_loss_hpo : . |
4P_snvindel_nb : 4 P_snvindel_phen : Lissencephaly_8 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RILPL1Gene_name : RILPL1; LOEUF_bin : 2 GnomAD_pLI : 3.8572e-01 ExAC_pLI : 6.6020e-02 HI : . TS : . DDD_HI_percent : 48.92 ACMG : . ExAC_cnvZ : -0.576731913437299 ExAC_delZ : 0.367641822625258 ExAC_dupZ : -0.908464129077155 ExAC_synZ : 1.03724010329128 ExAC_misZ : 2.60365862526182 GenCC_disease : oculopharyngodistal myopathy 4 GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 353116 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_178314 Tx_version : 5 Tx_start : 123470053 Tx_end : 123533719 Exon_count : 7 Overlapped_tx_length : 63666 Overlapped_CDS_length : 1212 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123470053 Intersect_end : 123533719 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:123517315-123533719P_loss_coord : 12:123517315-123533719 P_loss_source : morbid:RILPL1 P_loss_phen : Oculopharyngodistal myopathy 4, 619790 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PXNGene_name : PXN; LOEUF_bin : 2 GnomAD_pLI : 8.2342e-02 ExAC_pLI : 6.5684e-03 HI : . TS : . DDD_HI_percent : 8.07 ACMG : . ExAC_cnvZ : 0.601543067137193 ExAC_delZ : 0.430951738375953 ExAC_dupZ : 0.48426634056979 ExAC_synZ : -0.480650519718118 ExAC_misZ : 0.707938543930797 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7837 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : XM_047429236 Tx_version : 1 Tx_start : 120210446 Tx_end : 120250163 Exon_count : 16 Overlapped_tx_length : 39717 Overlapped_CDS_length : 3408 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120210446 Intersect_end : 120250163 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : yes OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KCNC2Gene_name : KCNC2; LOEUF_bin : 2 GnomAD_pLI : 1.8911e-01 ExAC_pLI : 3.5968e-03 HI : . TS : . DDD_HI_percent : 17.89 ACMG : . ExAC_cnvZ : 0.860713622642833 ExAC_delZ : 0.421231346707422 ExAC_dupZ : 0.744984371576242 ExAC_synZ : 1.65897974216079 ExAC_misZ : 3.59033756435823 GenCC_disease : developmental and epileptic encephalopathy 103 GenCC_moi : AD GenCC_classification : Strong GenCC_pmid : 23475819; 28714951; 29168350; 30314295; 31972370; 32392612; 33111300; 35314505 NCBI_gene_ID : 3747 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_139137 Tx_version : 4 Tx_start : 75040077 Tx_end : 75209839 Exon_count : 5 Overlapped_tx_length : 169762 Overlapped_CDS_length : 1917 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75040077 Intersect_end : 75209839 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:75191882-75208004P_loss_coord : 12:75191882-75208004 P_loss_source : morbid:KCNC2 P_loss_phen : Developmental and epileptic encephalopathy 103, 619913 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC11A2Gene_name : SLC11A2; LOEUF_bin : 2 GnomAD_pLI : 6.6528e-03 ExAC_pLI : 6.2352e-03 HI : . TS : . DDD_HI_percent : 19.25 ACMG : . ExAC_cnvZ : 0.431450996085469 ExAC_delZ : -0.383095554134285 ExAC_dupZ : 0.925046736167875 ExAC_synZ : -0.0139447977393804 ExAC_misZ : 2.11235694360176 GenCC_disease : microcytic anemia with liver iron overload GenCC_moi : AR GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 1545009; 15459009; 16023393; 16160008; 16160008[PMID]_16439678[PMID]; 1616008; 16439678; 16584902; 19553145; 21871825; 22313374; 29178181; 9642100 NCBI_gene_ID : 4891 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_047428887 Tx_version : 1 Tx_start : 50979783 Tx_end : 51028886 Exon_count : 18 Overlapped_tx_length : 49103 Overlapped_CDS_length : 1794 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50979783 Intersect_end : 51028886 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:50985992-51028886P_loss_coord : 12:50985992-51028886 P_loss_source : morbid:SLC11A2 P_loss_phen : Anemia, hypochromic microcytic, with iron overload 1, 206100 (3) AR P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Microcytic_anemia_with_liver_iron_overload |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CRADDGene_name : CRADD; LOEUF_bin : 2 GnomAD_pLI : 8.7862e-01 ExAC_pLI : 7.3181e-01 HI : 30 TS : 0 DDD_HI_percent : 41.34 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -1.83660051482895 ExAC_misZ : -0.250372286466606 GenCC_disease : autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 34; syndromic intellectual disability GenCC_moi : AR GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 22279524; 22279524[PMID]; 27773430; 28686357; 30167849; 30914828 NCBI_gene_ID : 8738 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_003805 Tx_version : 5 Tx_start : 93677374 Tx_end : 93850756 Exon_count : 3 Overlapped_tx_length : 173382 Overlapped_CDS_length : 600 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93677374 Intersect_end : 93850756 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:93678769-93738636; 12:93849951-93850271P_loss_coord : 12:93678769-93738636; 12:93849951-93850271 P_loss_source : dbVar:nssv18788310; morbid:CRADD P_loss_phen : Intellectual developmental disorder, AR 34, with variant lissencephaly, 614499 (3) AR P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Intellectual_disability; Intellectual_disability,_autosomal_recessive_34 |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FGD4Gene_name : FGD4; LOEUF_bin : 2 GnomAD_pLI : 9.8247e-03 ExAC_pLI : 3.3578e-01 HI : 30 TS : 0 DDD_HI_percent : 50.19 ACMG : . ExAC_cnvZ : 0.626250768039517 ExAC_delZ : 0.051982647518103 ExAC_dupZ : 0.837867862231995 ExAC_synZ : 0.599620573287202 ExAC_misZ : 1.15793220451047 GenCC_disease : Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 4H GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 153601; 15744041; 17564972; 23171661; 23926620[PMID]_20301641[PMID] NCBI_gene_ID : 121512 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : XM_047428291 Tx_version : 1 Tx_start : 32485971 Tx_end : 32646050 Exon_count : 18 Overlapped_tx_length : 160079 Overlapped_CDS_length : 2769 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 32485971 Intersect_end : 32646050 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:32576257-32640543; 12:32576353-32619876; 1[...]P_loss_coord : 12:32576257-32640543; 12:32576353-32619876; 12:32576359-32640533; 12:32600488-32646050 P_loss_source : dbVar:nssv15144825; dbVar:nssv16214006; dbVar:nssv17972275; morbid:FGD4 P_loss_phen : Charcot-Marie-Tooth disease, type 4H, 609311 (3) AR P_loss_hpo : . |
29P_snvindel_nb : 29 P_snvindel_phen : Charcot-Marie-Tooth_disease; Charcot-Marie-Tooth_disease_type_4; Charcot-Marie-Tooth_disease_type_4H; Inborn_genetic_diseases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FKBP11Gene_name : FKBP11; LOEUF_bin : 8 GnomAD_pLI : 6.4642e-07 ExAC_pLI : 2.2276e-05 HI : . TS : . DDD_HI_percent : 46.29 ACMG : . ExAC_cnvZ : 0.935511526108704 ExAC_delZ : 0.242695366997268 ExAC_dupZ : 1.13269404506601 ExAC_synZ : 0.337639975931063 ExAC_misZ : 0.148472349549366 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51303 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_047428939 Tx_version : 1 Tx_start : 48921962 Tx_end : 48939034 Exon_count : 7 Overlapped_tx_length : 17072 Overlapped_CDS_length : 849 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48921962 Intersect_end : 48939034 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4267Exomiser_gene_pheno_score : 0.4267 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HIP1RGene_name : HIP1R; LOEUF_bin : 4 GnomAD_pLI : 1.4566e-15 ExAC_pLI : 1.4430e-06 HI : . TS : . DDD_HI_percent : 49.72 ACMG : . ExAC_cnvZ : 1.01325031527539 ExAC_delZ : 0.593813293495425 ExAC_dupZ : 1.054173587801 ExAC_synZ : -0.741635980218724 ExAC_misZ : -1.01796287622861 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9026 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_003959 Tx_version : 3 Tx_start : 122835456 Tx_end : 122862961 Exon_count : 32 Overlapped_tx_length : 27505 Overlapped_CDS_length : 3207 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122835456 Intersect_end : 122862961 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3688Exomiser_gene_pheno_score : 0.3688 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PTPRQGene_name : PTPRQ; LOEUF_bin : 3 GnomAD_pLI : 4.2188e-21 ExAC_pLI : . HI : 30 TS : . DDD_HI_percent : 43.92 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : autosomal dominant nonsyndromic hearing loss; autosomal recessive nonsyndromic hearing loss 84A; hearing loss, autosomal dominant 73; hearing loss, autosomal recessive GenCC_moi : AD; AR; sD GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive GenCC_pmid : 14534255; 20301607[PMID]_24148127[PMID]; 20346435; 20472657; 22357859; 23767834; 25557914; 25919374; 26969326; 29309402; 29309402[PMID]; 29849575; 31655630 NCBI_gene_ID : 374462 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_001145026 Tx_version : 2 Tx_start : 80444234 Tx_end : 80680273 Exon_count : 45 Overlapped_tx_length : 236039 Overlapped_CDS_length : 6900 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80444234 Intersect_end : 80680273 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:80444235-80680273; 12:80669007-80669463P_loss_coord : 12:80444235-80680273; 12:80669007-80669463 P_loss_source : dbVar:nssv17956485; morbid:PTPRQ P_loss_phen : Deafness, AD 73, 617663 (3) AD; Deafness, AR 84A, 613391 (3) AR P_loss_hpo : . |
7P_snvindel_nb : 7 P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_84A; Hearing_impairment; Impaired_vibration_sensation_in_the_lower_limbs; Loss_of_ambulation; Pain; Pes_cavus; Pes_planus; Unsteady_gait |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DNAH10Gene_name : DNAH10; LOEUF_bin : 3 GnomAD_pLI : 1.3846e-57 ExAC_pLI : 4.1403e-37 HI : . TS : . DDD_HI_percent : 72.27 ACMG : . ExAC_cnvZ : 0.150371039911743 ExAC_delZ : 0.457649090546628 ExAC_dupZ : 0.0165507230108045 ExAC_synZ : -0.888187499776838 ExAC_misZ : -0.334400602189212 GenCC_disease : spermatogenic failure 56 GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 196385 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001372106 Tx_version : 1 Tx_start : 123762300 Tx_end : 123935714 Exon_count : 79 Overlapped_tx_length : 173414 Overlapped_CDS_length : 13770 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123762300 Intersect_end : 123935714 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:123853962-123935714P_loss_coord : 12:123853962-123935714 P_loss_source : morbid:DNAH10 P_loss_phen : Spermatogenic failure 56, 619515 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DHHGene_name : DHH; LOEUF_bin : 3 GnomAD_pLI : 2.2445e-01 ExAC_pLI : 2.5971e-01 HI : . TS : . DDD_HI_percent : 11.3 ACMG : . ExAC_cnvZ : 0.734298703426551 ExAC_delZ : 0.630242325894619 ExAC_dupZ : 0.582257879719589 ExAC_synZ : 2.18329832716605 ExAC_misZ : 3.79390077469744 GenCC_disease : 46,XY complete gonadal dysgenesis; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome GenCC_moi : AD; AR GenCC_classification : Strong; Supportive GenCC_pmid : 10482238; 11017805; 11017805[PMID]; 15356051; 20301714[PMID]; 21242195; 21816240; 23786321; 25383892; 25927242; 27899157; 29471294; 7985023; 8805249 NCBI_gene_ID : 50846 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_021044 Tx_version : 4 Tx_start : 49086655 Tx_end : 49094801 Exon_count : 3 Overlapped_tx_length : 8146 Overlapped_CDS_length : 1191 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49086655 Intersect_end : 49094801 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:49086656-49094801P_loss_coord : 12:49086656-49094801 P_loss_source : morbid:DHH P_loss_phen : 46XY gonadal dysgenesis with minifascicular neuropathy, 607080 (3) AR; 46XY sex reversal 7, 233420 (3) AR P_loss_hpo : . |
4P_snvindel_nb : 4 P_snvindel_phen : 46,XY_gonadal_dysgenesis-motor_and_sensory_neuropathy_syndrome; 46,XY_sex_reversal_7 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC25A3Gene_name : SLC25A3; LOEUF_bin : 3 GnomAD_pLI : 7.4834e-02 ExAC_pLI : 7.1558e-02 HI : . TS : . DDD_HI_percent : 13.16 ACMG : . ExAC_cnvZ : 0.627098499238911 ExAC_delZ : 0.768513333042948 ExAC_dupZ : 0.338256617633331 ExAC_synZ : 0.950723135829094 ExAC_misZ : 1.07863350823368 GenCC_disease : cardiomyopathy-hypotonia-lactic acidosis syndrome GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 17273968; 17273968[PMID]; 21763135; 25681081 NCBI_gene_ID : 5250 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_005888 Tx_version : 4 Tx_start : 98593685 Tx_end : 98606367 Exon_count : 8 Overlapped_tx_length : 12682 Overlapped_CDS_length : 1089 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98593685 Intersect_end : 98606367 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:98593686-98606367P_loss_coord : 12:98593686-98606367 P_loss_source : morbid:SLC25A3 P_loss_phen : Mitochondrial phosphate carrier deficiency, 610773 (3) AR P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Cardiomyopathy-hypotonia-lactic_acidosis_syndrome |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HPDGene_name : HPD; LOEUF_bin : 3 GnomAD_pLI : 5.2764e-04 ExAC_pLI : 7.7652e-03 HI : . TS : . DDD_HI_percent : 40.84 ACMG : . ExAC_cnvZ : -1.78760458031894 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.818921953021943 ExAC_synZ : -0.0424616607217827 ExAC_misZ : 1.2119949646798 GenCC_disease : hawkinsinuria; tyrosinemia type III GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 10942115; 10942115[PMID]; 11073718; 16602095; 17560158; 20677779; 23036342; 26226126; 27488560; 31342835 NCBI_gene_ID : 3242 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_002150 Tx_version : 3 Tx_start : 121839526 Tx_end : 121858859 Exon_count : 14 Overlapped_tx_length : 19333 Overlapped_CDS_length : 1182 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121839526 Intersect_end : 121858859 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:121843691-121847234; 12:121857434-121858686P_loss_coord : 12:121843691-121847234; 12:121857434-121858686 P_loss_source : dbVar:nssv15130233; dbVar:nssv18830870 P_loss_phen : . P_loss_hpo : . |
9P_snvindel_nb : 9 P_snvindel_phen : Hawkinsinuria; Tyrosinemia_type_III |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PFDN5Gene_name : PFDN5; LOEUF_bin : 7 GnomAD_pLI : 5.6773e-04 ExAC_pLI : 4.3386e-02 HI : . TS : . DDD_HI_percent : 12.74 ACMG : . ExAC_cnvZ : 0.491857089880872 ExAC_delZ : 0.875610965940442 ExAC_dupZ : 0.144167904611048 ExAC_synZ : 0.0104154406495299 ExAC_misZ : 0.169435186003908 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5204 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_002624 Tx_version : 4 Tx_start : 53295541 Tx_end : 53299450 Exon_count : 6 Overlapped_tx_length : 3909 Overlapped_CDS_length : 465 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53295541 Intersect_end : 53299450 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4069Exomiser_gene_pheno_score : 0.4069 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye electrophysiology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AMIGO2Gene_name : AMIGO2; LOEUF_bin : 2 GnomAD_pLI : 5.9743e-01 ExAC_pLI : 5.4524e-01 HI : . TS : . DDD_HI_percent : 66.81 ACMG : . ExAC_cnvZ : 0.531071781322495 ExAC_delZ : 0.230368928125819 ExAC_dupZ : 0.427663359344371 ExAC_synZ : 0.447908808316207 ExAC_misZ : 1.6445763605293 GenCC_disease : craniofacial microsomia 1 GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 347902 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_047428785 Tx_version : 1 Tx_start : 47075706 Tx_end : 47079959 Exon_count : 2 Overlapped_tx_length : 4253 Overlapped_CDS_length : 1569 Overlapped_CDS_percent : 96 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47075706 Intersect_end : 47079959 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3374Exomiser_gene_pheno_score : 0.3374 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal starburst amacrine cell morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SDSLGene_name : SDSL; LOEUF_bin : 9 GnomAD_pLI : 1.3641e-11 ExAC_pLI : 2.9914e-09 HI : . TS : . DDD_HI_percent : 75.59 ACMG : . ExAC_cnvZ : 0.439561658565982 ExAC_delZ : 0.2911634462733 ExAC_dupZ : 0.402569653715957 ExAC_synZ : 0.410837375621403 ExAC_misZ : -0.754035832519145 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 113675 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : XM_017018763 Tx_version : 2 Tx_start : 113425896 Tx_end : 113438276 Exon_count : 8 Overlapped_tx_length : 12380 Overlapped_CDS_length : 1029 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113425896 Intersect_end : 113438276 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4282Exomiser_gene_pheno_score : 0.4282 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AVILGene_name : AVIL; LOEUF_bin : 4 GnomAD_pLI : 1.6972e-13 ExAC_pLI : 1.0304e-10 HI : . TS : . DDD_HI_percent : 49.04 ACMG : . ExAC_cnvZ : -0.767856959905472 ExAC_delZ : -0.962858132706767 ExAC_dupZ : -0.685513612881477 ExAC_synZ : -0.0232041158055695 ExAC_misZ : -0.579313351943333 GenCC_disease : nephrotic syndrome, type 21 GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 29058690 NCBI_gene_ID : 10677 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : XM_047428110 Tx_version : 1 Tx_start : 57797379 Tx_end : 57818734 Exon_count : 19 Overlapped_tx_length : 21355 Overlapped_CDS_length : 2592 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57797379 Intersect_end : 57818734 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:57802954-57818734P_loss_coord : 12:57802954-57818734 P_loss_source : morbid:AVIL P_loss_phen : Nephrotic syndrome, type 21, 618594 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OTOGLGene_name : OTOGL; LOEUF_bin : 4 GnomAD_pLI : 4.7009e-52 ExAC_pLI : 3.7282e-31 HI : 30 TS : 0 DDD_HI_percent : 42.95 ACMG : . ExAC_cnvZ : -1.092762622497 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.572180850605919 ExAC_synZ : -1.45936672760871 ExAC_misZ : -3.30272720946863 GenCC_disease : autosomal recessive nonsyndromic hearing loss 84B; hearing loss, autosomal recessive; nonsyndromic genetic hearing loss GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 141578; 171932; 23122586; 23122586[PMID]; 234034; 23850727; 25719458; 25829320; 264364; 26969326; 28426234 NCBI_gene_ID : 283310 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : XM_005268802 Tx_version : 4 Tx_start : 80130376 Tx_end : 80380880 Exon_count : 62 Overlapped_tx_length : 250504 Overlapped_CDS_length : 7086 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80130376 Intersect_end : 80380880 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:80217330-80380880; 12:80238803-80331073; 1[...]P_loss_coord : 12:80217330-80380880; 12:80238803-80331073; 12:80238803-80334477; 12:80238886-80339032; 12:80278171-80336529; 12:80320403-80320720; 12:80367491-80378127 P_loss_source : dbVar:nssv15130108; dbVar:nssv15130109; dbVar:nssv15771053; dbVar:nssv15774680; dbVar:nssv15776176; dbVar:nssv18790174; morbid:OTOGL P_loss_phen : Deafness, AR 84B, 614944 (3) AR P_loss_hpo : . |
34P_snvindel_nb : 34 P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_84B; Rare_genetic_deafness; See_cases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GPD1Gene_name : GPD1; LOEUF_bin : 4 GnomAD_pLI : 5.5506e-03 ExAC_pLI : 1.4732e-01 HI : 30 TS : 0 DDD_HI_percent : 31.74 ACMG : . ExAC_cnvZ : 0.823906294961791 ExAC_delZ : 0.139054778471353 ExAC_dupZ : 1.03635343465444 ExAC_synZ : -1.19351914966665 ExAC_misZ : -0.128151776721284 GenCC_disease : transient infantile hypertriglyceridemia and hepatosteatosis GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 22226083; 22226083[PMID]; 29940878 NCBI_gene_ID : 2819 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_005276 Tx_version : 4 Tx_start : 50104007 Tx_end : 50111313 Exon_count : 8 Overlapped_tx_length : 7306 Overlapped_CDS_length : 1050 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50104007 Intersect_end : 50111313 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:50104008-50111313P_loss_coord : 12:50104008-50111313 P_loss_source : morbid:GPD1 P_loss_phen : Hypertriglyceridemia, transient infantile, 614480 (3) AR P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : Transient_infantile_hypertriglyceridemia_and_hepatosteatosis |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MMABGene_name : MMAB; LOEUF_bin : 4 GnomAD_pLI : 4.1291e-03 ExAC_pLI : 3.8772e-03 HI : 30 TS : 0 DDD_HI_percent : 67.13 ACMG : . ExAC_cnvZ : -1.44619840166543 ExAC_delZ : -0.669706377350663 ExAC_dupZ : -1.64565341413701 ExAC_synZ : 0.541994745850033 ExAC_misZ : 0.116871837447281 GenCC_disease : methylmalonic aciduria, cblB type GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 12471062; 15781192; 16410054; 251110; NULL NCBI_gene_ID : 326625 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_052845 Tx_version : 4 Tx_start : 109553714 Tx_end : 109573504 Exon_count : 9 Overlapped_tx_length : 19790 Overlapped_CDS_length : 753 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109553714 Intersect_end : 109573504 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:109553715-109573504; 12:109561021-109565196P_loss_coord : 12:109553715-109573504; 12:109561021-109565196 P_loss_source : dbVar:nssv15131657; morbid:MMAB P_loss_phen : Methylmalonic aciduria, vitamin B12-responsive, cblB type, 251110 (3) AR P_loss_hpo : . |
37P_snvindel_nb : 37 P_snvindel_phen : Inborn_genetic_diseases; MMAB-related_condition; Methylmalonic_acidemia; Methylmalonic_aciduria,_cblB_type |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
B4GALNT1Gene_name : B4GALNT1; LOEUF_bin : 4 GnomAD_pLI : 3.9259e-05 ExAC_pLI : 5.6074e-02 HI : . TS : . DDD_HI_percent : 49.81 ACMG : . ExAC_cnvZ : 0.290886139792294 ExAC_delZ : 1.08031657614542 ExAC_dupZ : -0.14377295814305 ExAC_synZ : 1.92416950961529 ExAC_misZ : 2.74473291492283 GenCC_disease : complex hereditary spastic paraplegia; hereditary spastic paraplegia 26 GenCC_moi : AR GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 23746551; 23746551[PMID] NCBI_gene_ID : 2583 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_047428680 Tx_version : 1 Tx_start : 57623408 Tx_end : 57632498 Exon_count : 10 Overlapped_tx_length : 9090 Overlapped_CDS_length : 1968 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57623408 Intersect_end : 57632498 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
18P_snvindel_nb : 18 P_snvindel_phen : Hereditary_spastic_paraplegia_26; Inborn_genetic_diseases; Spastic_paraplegia |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
UNGGene_name : UNG; LOEUF_bin : 4 GnomAD_pLI : 1.7247e-03 ExAC_pLI : 4.6581e-02 HI : . TS : . DDD_HI_percent : 7.38 ACMG : . ExAC_cnvZ : -1.76961532359739 ExAC_delZ : -0.899495092756445 ExAC_dupZ : -2.0478834677325 ExAC_synZ : -0.133726100414134 ExAC_misZ : -0.110554244784142 GenCC_disease : hyper-IgM syndrome type 5 GenCC_moi : AR GenCC_classification : Moderate; Strong GenCC_pmid : 12958596; 15494304; 19302039 NCBI_gene_ID : 7374 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_080911 Tx_version : 3 Tx_start : 109097596 Tx_end : 109110992 Exon_count : 7 Overlapped_tx_length : 13396 Overlapped_CDS_length : 942 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109097596 Intersect_end : 109110992 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:109098172-109110992P_loss_coord : 12:109098172-109110992 P_loss_source : morbid:UNG P_loss_phen : Immunodeficiency with hyper IgM, type 5, 608106 (3) AR P_loss_hpo : . |
10P_snvindel_nb : 10 P_snvindel_phen : Hyper-IgM_syndrome_type_5 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DPY19L2Gene_name : DPY19L2; LOEUF_bin : 4 GnomAD_pLI : 1.0936e-13 ExAC_pLI : 7.0294e-05 HI : . TS : . DDD_HI_percent : 81.13 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.02618176351368 ExAC_misZ : 1.66555804568279 GenCC_disease : male infertility due to globozoospermia; spermatogenic failure 9 GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 17008355; 21397063; 21397063[PMID]_22571172[PMID]; 21397064; 22627659; 22653751; 25755131; 25780569 NCBI_gene_ID : 283417 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : 5'UTR-3'UTR Tx : NM_173812 Tx_version : 5 Tx_start : 63558912 Tx_end : 63668493 Exon_count : 22 Overlapped_tx_length : 109581 Overlapped_CDS_length : 2277 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 63558912 Intersect_end : 63668493 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:63595967-63596037; 12:63612272-63668493P_loss_coord : 12:63595967-63596037; 12:63612272-63668493 P_loss_source : dbVar:nssv16213932; morbid:DPY19L2 P_loss_phen : Spermatogenic failure 9, 613958 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Spermatogenic_failure_9 |
dbVarB_loss_source : dbVar B_loss_coord : chr12:63529497-63725471; chr12:63545378-63723455; chr12:63552489-63747725 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
POLR3BGene_name : POLR3B; LOEUF_bin : 4 GnomAD_pLI : 1.6812e-23 ExAC_pLI : 2.7299e-09 HI : . TS : . DDD_HI_percent : 10.15 ACMG : . ExAC_cnvZ : 0.173101933651209 ExAC_delZ : -1.44345472253267 ExAC_dupZ : 1.61433019894927 ExAC_synZ : 0.68504337804406 ExAC_misZ : 3.56902509736716 GenCC_disease : Charcot-Marie-Tooth disease, demyelinating, IIA 1I; endosteal sclerosis-cerebellar hypoplasia syndrome; hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 18044988; 22036171; 22036172; 22855961[PMID]_22036172[PMID]; 23355746; 25339210; 26478204; 28589944[PMID]_15672385[PMID]; 31221184; 33417887; 34666706; 35482004 NCBI_gene_ID : 55703 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_018082 Tx_version : 6 Tx_start : 106357747 Tx_end : 106510198 Exon_count : 28 Overlapped_tx_length : 152451 Overlapped_CDS_length : 3402 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106357747 Intersect_end : 106510198 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:106358110-106510198; 12:106454483-106463640P_loss_coord : 12:106358110-106510198; 12:106454483-106463640 P_loss_source : dbVar:nssv18786958; morbid:POLR3B P_loss_phen : Charcot-Marie-Tooth disease, demyelinating, type 1I, 619742 (3) AD; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and; or hypogonadotropic hypogonadism, 614381 (3) AR P_loss_hpo : . |
23P_snvindel_nb : 23 P_snvindel_phen : Charcot-Marie-Tooth_disease,_demyelinating,_IIA_1I; Hypogonadotropic_hypogonadism; Hypogonadotropic_hypogonadism_7_with_or_without_anosmia; Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism; Leukoencephalopathy-ataxia-hypodontia-hypomyelination_syndrome; POLR3-related_leukodystrophy; POLR3B-related_condition; Pol_III-related_leukodystrophy; See_cases; not_specified |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KNTC1Gene_name : KNTC1; LOEUF_bin : 4 GnomAD_pLI : 5.3346e-43 ExAC_pLI : 4.7772e-32 HI : . TS : . DDD_HI_percent : 6.81 ACMG : . ExAC_cnvZ : -1.53037576386883 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -0.592831798998926 ExAC_synZ : -0.800397903846749 ExAC_misZ : -2.53706221716748 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9735 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_014708 Tx_version : 6 Tx_start : 122527248 Tx_end : 122626396 Exon_count : 64 Overlapped_tx_length : 99148 Overlapped_CDS_length : 6630 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122527248 Intersect_end : 122626396 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3561Exomiser_gene_pheno_score : 0.3561 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; narrow eye opening Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_138396 Tx_version : 6 Tx_start : 57755102 Tx_end : 57760411 Exon_count : 4 Overlapped_tx_length : 5309 Overlapped_CDS_length : 1041 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57755102 Intersect_end : 57760411 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4337Exomiser_gene_pheno_score : 0.4337 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal bone mineralization Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BLOC1S1Gene_name : BLOC1S1; LOEUF_bin : 5 GnomAD_pLI : 7.0821e-02 ExAC_pLI : 2.0580e-01 HI : . TS : . DDD_HI_percent : 27.11 ACMG : . ExAC_cnvZ : 0.865241083359408 ExAC_delZ : 0.390039338293028 ExAC_dupZ : 0.777388536595481 ExAC_synZ : -0.578989635229253 ExAC_misZ : -0.604642711223636 GenCC_disease : complex neurodevelopmental disorder GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : 33875846 NCBI_gene_ID : 2647 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001487 Tx_version : 4 Tx_start : 55716045 Tx_end : 55719703 Exon_count : 4 Overlapped_tx_length : 3658 Overlapped_CDS_length : 462 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55716045 Intersect_end : 55719703 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3706Exomiser_gene_pheno_score : 0.3706 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; absent eye pigmentation Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IRAK4Gene_name : IRAK4; LOEUF_bin : 5 GnomAD_pLI : 7.8001e-09 ExAC_pLI : 5.7687e-04 HI : 30 TS : 0 DDD_HI_percent : 45.48 ACMG : . ExAC_cnvZ : -0.190483915106364 ExAC_delZ : -0.967315580202105 ExAC_dupZ : 0.331384081676816 ExAC_synZ : -0.361028829290328 ExAC_misZ : -1.13435509329628 GenCC_disease : immunodeficiency 67 GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 17893200; 21057262; 24316379; 610799; NULL NCBI_gene_ID : 51135 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001114182 Tx_version : 3 Tx_start : 43758950 Tx_end : 43789541 Exon_count : 13 Overlapped_tx_length : 30591 Overlapped_CDS_length : 1383 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 43758950 Intersect_end : 43789541 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:43759207-43789541; 12:43775406-43788500; 1[...]P_loss_coord : 12:43759207-43789541; 12:43775406-43788500; 12:43782288-43782510; 12:43783643-43786735 P_loss_source : dbVar:nssv15129308; dbVar:nssv16866485; dbVar:nssv17972029; morbid:IRAK4 P_loss_phen : Immunodeficiency 67, 607676 (3) AR P_loss_hpo : . |
17P_snvindel_nb : 17 P_snvindel_phen : IRAK4-related_condition; Immunodeficiency_67 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
POC1BGene_name : POC1B; LOEUF_bin : 5 GnomAD_pLI : 3.0483e-08 ExAC_pLI : 5.8943e-05 HI : . TS : . DDD_HI_percent : 43.83 ACMG : . ExAC_cnvZ : 0.146120197056216 ExAC_delZ : 0.748933752079521 ExAC_dupZ : -0.224866353738072 ExAC_synZ : 0.301925535326425 ExAC_misZ : -0.952718508024199 GenCC_disease : cone-rod dystrophy; cone-rod dystrophy 20 GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 20008567; 24945461; 25018096; 25018096[PMID]; 25044745; 29220607 NCBI_gene_ID : 282809 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_172240 Tx_version : 3 Tx_start : 89419717 Tx_end : 89526047 Exon_count : 12 Overlapped_tx_length : 106330 Overlapped_CDS_length : 1437 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89419717 Intersect_end : 89526047 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:89419718-89526047; 12:89421154-89421277; 1[...]P_loss_coord : 12:89419718-89526047; 12:89421154-89421277; 12:89459619-89472295 P_loss_source : dbVar:nssv17971305; dbVar:nssv18790162; morbid:POC1B P_loss_phen : Cone-rod dystrophy 20, 615973 (3) AR P_loss_hpo : . |
25P_snvindel_nb : 25 P_snvindel_phen : Cone-rod_dystrophy; Cone-rod_dystrophy_20; Retinal_dystrophy |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
EIF2B1Gene_name : EIF2B1; LOEUF_bin : 5 GnomAD_pLI : 7.6150e-05 ExAC_pLI : 1.0480e-01 HI : 30 TS : . DDD_HI_percent : 49.37 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.52270330491505 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.0444189291440121 ExAC_misZ : 1.46578463764889 GenCC_disease : leukoencephalopathy with vanishing white matter; leukoencephalopathy with vanishing white matter 1; ovarioleukodystrophy GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 11835386; 20301435[PMID]_15136673[PMID]; 25843247; 26285592; 32865661; 33432707 NCBI_gene_ID : 1967 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001414 Tx_version : 4 Tx_start : 123620405 Tx_end : 123633686 Exon_count : 9 Overlapped_tx_length : 13281 Overlapped_CDS_length : 918 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123620405 Intersect_end : 123633686 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:123620406-123633686P_loss_coord : 12:123620406-123633686 P_loss_source : morbid:EIF2B1 P_loss_phen : Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, 603896 (3) AR P_loss_hpo : . |
5P_snvindel_nb : 5 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PFKMGene_name : PFKM; LOEUF_bin : 5 GnomAD_pLI : 3.7625e-18 ExAC_pLI : 6.0326e-07 HI : . TS : . DDD_HI_percent : 13.85 ACMG : . ExAC_cnvZ : -0.476164279138083 ExAC_delZ : 0.554494612945779 ExAC_dupZ : -0.963949508847005 ExAC_synZ : 1.18015899655463 ExAC_misZ : 2.57737631717647 GenCC_disease : glycogen storage disease VII GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 22133655; 24427140; 27066546; 30792690; 7825568; 8037209; NULL NCBI_gene_ID : 5213 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_047428999 Tx_version : 1 Tx_start : 48105480 Tx_end : 48146404 Exon_count : 26 Overlapped_tx_length : 40924 Overlapped_CDS_length : 2862 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48105480 Intersect_end : 48146404 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:48122647-48146404P_loss_coord : 12:48122647-48146404 P_loss_source : morbid:PFKM P_loss_phen : Glycogen storage disease VII, 232800 (3) AR P_loss_hpo : . |
37P_snvindel_nb : 37 P_snvindel_phen : Glycogen_storage_disease; Glycogen_storage_disease,_type_VII; Rhabdomyolysis |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AMHR2Gene_name : AMHR2; LOEUF_bin : 5 GnomAD_pLI : 2.7013e-10 ExAC_pLI : 5.9308e-07 HI : . TS : . DDD_HI_percent : 32.73 ACMG : . ExAC_cnvZ : 0.483836593443314 ExAC_delZ : -0.137382436458176 ExAC_dupZ : 0.76690035542466 ExAC_synZ : -0.0647955995273722 ExAC_misZ : -0.251975944180663 GenCC_disease : persistent Mullerian duct syndrome GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 19359476; 23295284[PMID]; 249214; 251078; 251318; 28094762; 28528332; 8872466 NCBI_gene_ID : 269 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_011538173 Tx_version : 2 Tx_start : 53423854 Tx_end : 53431672 Exon_count : 12 Overlapped_tx_length : 7818 Overlapped_CDS_length : 1782 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53423854 Intersect_end : 53431672 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
12:53425086-53431672P_loss_coord : 12:53425086-53431672 P_loss_source : morbid:AMHR2 P_loss_phen : Persistent Mullerian duct syndrome, type II, 261550 (3) AR P_loss_hpo : . |
9P_snvindel_nb : 9 P_snvindel_phen : Male_pseudohermaphroditism; Persistent_Mullerian_duct_syndrome; Persistent_mullerian_duct_syndrome,_type_II |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ACADSGene_name : ACADS; LOEUF_bin : 5 GnomAD_pLI : 2.8026e-06 ExAC_pLI : 1.6291e-04 HI : . TS : . DDD_HI_percent : 57.39 ACMG : . ExAC_cnvZ : -0.848236534066731 ExAC_delZ : -1.97506930941631 ExAC_dupZ : 0.0423408765318944 ExAC_synZ : 0.523952348882777 ExAC_misZ : 0.538306042713068 GenCC_disease : short chain acyl-CoA dehydrogenase deficiency GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 12736383; 12736388; 18523805; 21938826[PMID]; 22241096; 27051597; 2808706 NCBI_gene_ID : 35 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_000017 Tx_version : 4 Tx_start : 120725825 Tx_end : 120740008 Exon_count : 10 Overlapped_tx_length : 14183 Overlapped_CDS_length : 1239 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120725825 Intersect_end : 120740008 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:120725826-120740008; 12:120734963-12073843[...]P_loss_coord : 12:120725826-120740008; 12:120734963-120738432; 12:120736652-120738644 P_loss_source : dbVar:nssv17973463; dbVar:nssv18790975; morbid:ACADS P_loss_phen : Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) AR P_loss_hpo : . |
33P_snvindel_nb : 33 P_snvindel_phen : ACADS-related_condition; Deficiency_of_butyryl-CoA_dehydrogenase; Inborn_genetic_diseases; See_cases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SDSGene_name : SDS; LOEUF_bin : 5 GnomAD_pLI : 1.3923e-04 ExAC_pLI : 5.4843e-03 HI : . TS : . DDD_HI_percent : 61.05 ACMG : . ExAC_cnvZ : 0.12720463666295 ExAC_delZ : -0.0458737947210949 ExAC_dupZ : 0.1586220466016 ExAC_synZ : -0.974402066089358 ExAC_misZ : 0.531166859955744 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51119 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_006843 Tx_version : 3 Tx_start : 113392444 Tx_end : 113403887 Exon_count : 8 Overlapped_tx_length : 11443 Overlapped_CDS_length : 987 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113392444 Intersect_end : 113403887 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:113392445-113403887P_loss_coord : 12:113392445-113403887 P_loss_source : morbid:SDS P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SYCP3Gene_name : SYCP3; LOEUF_bin : 5 GnomAD_pLI : 9.1772e-05 ExAC_pLI : 5.5262e-05 HI : . TS : . DDD_HI_percent : 51.51 ACMG : . ExAC_cnvZ : 0.777504753844405 ExAC_delZ : 0.410731542182645 ExAC_dupZ : 0.760717332579163 ExAC_synZ : 0.0138309289809139 ExAC_misZ : 0.338111838370488 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 50511 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : XM_005268922 Tx_version : 6 Tx_start : 101728647 Tx_end : 101739462 Exon_count : 8 Overlapped_tx_length : 10815 Overlapped_CDS_length : 729 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101728647 Intersect_end : 101739462 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:101728648-101739462P_loss_coord : 12:101728648-101739462 P_loss_source : morbid:SYCP3 P_loss_phen : Pregnancy loss, recurrent, 4, 270960 (3) AD; Spermatogenic failure 4, 270960 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AAASGene_name : AAAS; LOEUF_bin : 5 GnomAD_pLI : 2.4356e-13 ExAC_pLI : 4.5429e-10 HI : . TS : . DDD_HI_percent : 41.47 ACMG : . ExAC_cnvZ : -0.554664506697577 ExAC_delZ : -0.0332104949181626 ExAC_dupZ : -0.834987294710156 ExAC_synZ : -0.227456160480549 ExAC_misZ : -0.684115256864371 GenCC_disease : triple-A syndrome GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 11062474; 11159947; 11159947[PMID]_20674935[PMID]_11815731[PMID]; 11701718; 12752575; 15173230; 18628786; 20051279; 21656342; 26300845; 29180348 NCBI_gene_ID : 8086 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_015665 Tx_version : 6 Tx_start : 53307459 Tx_end : 53321610 Exon_count : 16 Overlapped_tx_length : 14151 Overlapped_CDS_length : 1641 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53307459 Intersect_end : 53321610 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:53307460-53321610; 12:53320546-53321465P_loss_coord : 12:53307460-53321610; 12:53320546-53321465 P_loss_source : dbVar:nssv18791333; morbid:AAAS P_loss_phen : Achalasia-addisonianism-alacrimia syndrome, 231550 (3) AR P_loss_hpo : . |
41P_snvindel_nb : 41 P_snvindel_phen : Achalasia-alacrima_syndrome; Babinski_sign; Glucocorticoid_deficiency_with_achalasia; Hyperreflexia; Inborn_genetic_diseases; Neurodevelopmental_disorder; Spastic_paraparesis |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : NM_001330497 Tx_version : 2 Tx_start : 130953906 Tx_end : 131141469 Exon_count : 26 Overlapped_tx_length : 187563 Overlapped_CDS_length : 2721 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130953906 Intersect_end : 131141469 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4267Exomiser_gene_pheno_score : 0.4267 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT72Gene_name : KRT72; LOEUF_bin : 7 GnomAD_pLI : 1.3674e-11 ExAC_pLI : 3.0692e-05 HI : . TS : . DDD_HI_percent : 64.75 ACMG : . ExAC_cnvZ : 1.47792200695946 ExAC_delZ : 1.02118748246623 ExAC_dupZ : 1.30412100422346 ExAC_synZ : 0.710846512354789 ExAC_misZ : 0.110466339817287 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140807 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001146225 Tx_version : 2 Tx_start : 52585588 Tx_end : 52601463 Exon_count : 10 Overlapped_tx_length : 15875 Overlapped_CDS_length : 1536 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52585588 Intersect_end : 52601463 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3831Exomiser_gene_pheno_score : 0.3831 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TAC3Gene_name : TAC3; LOEUF_bin : 6 GnomAD_pLI : 1.1650e-02 ExAC_pLI : 4.0450e-02 HI : . TS : . DDD_HI_percent : 56.85 ACMG : . ExAC_cnvZ : 1.07913303959548 ExAC_delZ : 0.606391284499162 ExAC_dupZ : 0.94244998393439 ExAC_synZ : -0.0706239446733496 ExAC_misZ : 1.04773819952524 GenCC_disease : hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 10 with or without anosmia; hypogonadotropic hypogonadism 7 with or without anosmia GenCC_moi : AD; AR GenCC_classification : Strong; Supportive GenCC_pmid : 19079066; 19079066[PMID]; 20194706; 20332248; 250558; 25077900; 282832; 282842; 29419413; 3712828 NCBI_gene_ID : 6866 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_013251 Tx_version : 4 Tx_start : 57009999 Tx_end : 57016529 Exon_count : 7 Overlapped_tx_length : 6530 Overlapped_CDS_length : 366 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57009999 Intersect_end : 57016529 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:57010000-57016529P_loss_coord : 12:57010000-57016529 P_loss_source : morbid:TAC3 P_loss_phen : Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SUOXGene_name : SUOX; LOEUF_bin : 6 GnomAD_pLI : 9.3990e-07 ExAC_pLI : 2.0848e-03 HI : . TS : . DDD_HI_percent : 49.58 ACMG : . ExAC_cnvZ : 0.677460730064477 ExAC_delZ : 0.275191884454461 ExAC_dupZ : 0.595595203282938 ExAC_synZ : 0.674006296074996 ExAC_misZ : -0.443832879747659 GenCC_disease : isolated sulfite oxidase deficiency GenCC_moi : AR GenCC_classification : Definitive; Strong GenCC_pmid : 1.59164E+15; 11825068; 12112661; 1212661; 12368985; 15952210; 27289259; 33405344; 34025712; 34117075; 9428520; 9600976 NCBI_gene_ID : 6821 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_000456 Tx_version : 3 Tx_start : 55997275 Tx_end : 56005525 Exon_count : 6 Overlapped_tx_length : 8250 Overlapped_CDS_length : 1638 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55997275 Intersect_end : 56005525 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:55997276-56005525; 12:56002223-56002740P_loss_coord : 12:55997276-56005525; 12:56002223-56002740 P_loss_source : dbVar:nssv18789227; morbid:SUOX P_loss_phen : Sulfite oxidase deficiency, 272300 (3) AR P_loss_hpo : . |
33P_snvindel_nb : 33 P_snvindel_phen : Inborn_genetic_diseases; SUOX-related_condition; Sulfite_oxidase_deficiency; Sulfocysteinuria |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ISCUGene_name : ISCU; LOEUF_bin : 6 GnomAD_pLI : 4.1463e-02 ExAC_pLI : 1.3595e-01 HI : . TS : . DDD_HI_percent : 34.21 ACMG : . ExAC_cnvZ : 1.16174656972633 ExAC_delZ : 0.712333192651831 ExAC_dupZ : 0.982675681352475 ExAC_synZ : -0.0855354320015334 ExAC_misZ : 0.847083583925693 GenCC_disease : hereditary myopathy with lactic acidosis due to ISCU deficiency GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 18296749; 18304497; 19567699; 20206689; 20301757[PMID]; 7616539 NCBI_gene_ID : 23479 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_213595 Tx_version : 4 Tx_start : 108562595 Tx_end : 108569368 Exon_count : 5 Overlapped_tx_length : 6773 Overlapped_CDS_length : 504 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108562595 Intersect_end : 108569368 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Hereditary_myopathy_with_lactic_acidosis_due_to_ISCU_deficiency |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT3Gene_name : KRT3; LOEUF_bin : 6 GnomAD_pLI : 8.9951e-10 ExAC_pLI : 1.9269e-06 HI : . TS : . DDD_HI_percent : 65.41 ACMG : . ExAC_cnvZ : 0.607104233461275 ExAC_delZ : -0.257035076739753 ExAC_dupZ : 1.03197486752732 ExAC_synZ : -0.948550901634449 ExAC_misZ : -0.280345243429276 GenCC_disease : Meesmann corneal dystrophy; corneal dystrophy, Meesmann, 1 GenCC_moi : AD GenCC_classification : Strong; Supportive GenCC_pmid : 16227835; 18806880; 19337156; 21176769; 26788030; 9171831; 9171831[PMID] NCBI_gene_ID : 3850 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_057088 Tx_version : 3 Tx_start : 52789684 Tx_end : 52796117 Exon_count : 9 Overlapped_tx_length : 6433 Overlapped_CDS_length : 1887 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52789684 Intersect_end : 52796117 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.05 |
.RE_gene : . |
12:52789685-52796117P_loss_coord : 12:52789685-52796117 P_loss_source : morbid:KRT3 P_loss_phen : Meesmann corneal dystrophy 2, 618767 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TCHPGene_name : TCHP; LOEUF_bin : 5 GnomAD_pLI : 1.8026e-16 ExAC_pLI : 6.9963e-12 HI : . TS : . DDD_HI_percent : 64.69 ACMG : . ExAC_cnvZ : -0.858114421911949 ExAC_delZ : -0.0688441185735911 ExAC_dupZ : -1.17095047705428 ExAC_synZ : 0.125612578144867 ExAC_misZ : -0.990884879990868 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84260 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_011538837 Tx_version : 2 Tx_start : 109880666 Tx_end : 109918069 Exon_count : 13 Overlapped_tx_length : 37403 Overlapped_CDS_length : 1497 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109880666 Intersect_end : 109918069 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3445Exomiser_gene_pheno_score : 0.3445 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal incisor morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IL31Gene_name : IL31; LOEUF_bin : 8 GnomAD_pLI : 1.1445e-02 ExAC_pLI : 1.5089e-01 HI : . TS : . DDD_HI_percent : 99.99 ACMG : . ExAC_cnvZ : 0.291234491646904 ExAC_delZ : -0.120299441284811 ExAC_dupZ : 0.404836579890964 ExAC_synZ : -0.583032537365494 ExAC_misZ : 0.860284983722483 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 386653 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001014336 Tx_version : 2 Tx_start : 122172028 Tx_end : 122174221 Exon_count : 3 Overlapped_tx_length : 2193 Overlapped_CDS_length : 495 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122172028 Intersect_end : 122174221 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3844Exomiser_gene_pheno_score : 0.3844 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; short tibia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM116Gene_name : TMEM116; LOEUF_bin : 7 GnomAD_pLI : 5.1196e-13 ExAC_pLI : 1.1500e-09 HI : . TS : . DDD_HI_percent : 50.38 ACMG : . ExAC_cnvZ : 0.781030625123213 ExAC_delZ : 0.649409065469972 ExAC_dupZ : 0.559755897569141 ExAC_synZ : 0.396189111400266 ExAC_misZ : -0.0926580560196667 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 89894 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001193531 Tx_version : 2 Tx_start : 111931297 Tx_end : 112013165 Exon_count : 11 Overlapped_tx_length : 81868 Overlapped_CDS_length : 1014 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111931297 Intersect_end : 112013165 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3688Exomiser_gene_pheno_score : 0.3688 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MMP19Gene_name : MMP19; LOEUF_bin : 7 GnomAD_pLI : 1.9975e-20 ExAC_pLI : 1.4538e-13 HI : . TS : . DDD_HI_percent : 52.42 ACMG : . ExAC_cnvZ : 0.917524245534023 ExAC_delZ : 0.243175944821243 ExAC_dupZ : 1.06712693994153 ExAC_synZ : -0.127482649920694 ExAC_misZ : -0.643047820883694 GenCC_disease : familial cavitary optic disk anomaly GenCC_moi : AD GenCC_classification : Limited; Supportive GenCC_pmid : 25581579[PMID] NCBI_gene_ID : 4327 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_002429 Tx_version : 6 Tx_start : 55835432 Tx_end : 55842936 Exon_count : 9 Overlapped_tx_length : 7504 Overlapped_CDS_length : 1527 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55835432 Intersect_end : 55842936 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.06 |
.RE_gene : . |
12:55835433-55842936P_loss_coord : 12:55835433-55842936 P_loss_source : morbid:MMP19 P_loss_phen : Cavitary optic disc anomalies, 611543 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
YARS2Gene_name : YARS2; LOEUF_bin : 7 GnomAD_pLI : 3.0025e-11 ExAC_pLI : 6.8842e-06 HI : . TS : . DDD_HI_percent : 44.97 ACMG : . ExAC_cnvZ : 0.110638369246966 ExAC_delZ : -1.03313325580563 ExAC_dupZ : 0.975465705906767 ExAC_synZ : 1.38890082589152 ExAC_misZ : 2.12220191880852 GenCC_disease : myopathy, lactic acidosis, and sideroblastic anemia; myopathy, lactic acidosis, and sideroblastic anemia 2 GenCC_moi : AR GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 121040; 20598274; 20598274[PMID]_22504945[PMID]_24344687[PMID]_24430573[PMID]; 23918765; 24344687; 25638461; 26647310; 26944241; 30026338 NCBI_gene_ID : 51067 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_001040436 Tx_version : 3 Tx_start : 32746543 Tx_end : 32755897 Exon_count : 5 Overlapped_tx_length : 9354 Overlapped_CDS_length : 1434 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 32746543 Intersect_end : 32755897 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:32746544-32755897P_loss_coord : 12:32746544-32755897 P_loss_source : morbid:YARS2 P_loss_phen : Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) AR P_loss_hpo : . |
14P_snvindel_nb : 14 P_snvindel_phen : Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_2 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PRPHGene_name : PRPH; LOEUF_bin : 7 GnomAD_pLI : 4.7898e-14 ExAC_pLI : 5.0458e-10 HI : . TS : . DDD_HI_percent : 10.24 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -0.576315929741481 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 1.97128753520279 ExAC_misZ : 2.59501060169631 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 5630 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_006262 Tx_version : 4 Tx_start : 49295146 Tx_end : 49298686 Exon_count : 9 Overlapped_tx_length : 3540 Overlapped_CDS_length : 1413 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49295146 Intersect_end : 49298686 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:49295147-49298686P_loss_coord : 12:49295147-49298686 P_loss_source : morbid:PRPH P_loss_phen : Amyotrophic lateral sclerosis, susceptibility to, 105400 (3) AR,AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DIABLOGene_name : DIABLO; LOEUF_bin : 7 GnomAD_pLI : 2.5722e-06 ExAC_pLI : 8.8996e-04 HI : . TS : . DDD_HI_percent : 16.32 ACMG : . ExAC_cnvZ : 1.0543444986065 ExAC_delZ : 0.61613836735255 ExAC_dupZ : 0.891653489950639 ExAC_synZ : -1.10466126537821 ExAC_misZ : -0.846583689183292 GenCC_disease : autosomal dominant nonsyndromic hearing loss; autosomal dominant nonsyndromic hearing loss 64; nonsyndromic genetic hearing loss GenCC_moi : AD GenCC_classification : Limited; Moderate; Supportive GenCC_pmid : 10929711; 11971981; 21722859; 21722859[PMID]_24148127[PMID]; 250906; 26969326 NCBI_gene_ID : 56616 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_019887 Tx_version : 6 Tx_start : 122207667 Tx_end : 122227456 Exon_count : 7 Overlapped_tx_length : 19789 Overlapped_CDS_length : 720 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122207667 Intersect_end : 122227456 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:122207668-122227456P_loss_coord : 12:122207668-122227456 P_loss_source : morbid:DIABLO P_loss_phen : Deafness, AD 64, 614152 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001367885 Tx_version : 1 Tx_start : 96489576 Tx_end : 96875555 Exon_count : 69 Overlapped_tx_length : 385979 Overlapped_CDS_length : 9486 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 96489576 Intersect_end : 96875555 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4050Exomiser_gene_pheno_score : 0.4050 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; domed cranium Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
METTL25Gene_name : METTL25; LOEUF_bin : 5 GnomAD_pLI : 9.1880e-13 ExAC_pLI : 1.6483e-07 HI : . TS : . DDD_HI_percent : 51.47 ACMG : . ExAC_cnvZ : -0.949310786237117 ExAC_delZ : -1.23077806561195 ExAC_dupZ : -0.779608399143751 ExAC_synZ : -0.380821376192136 ExAC_misZ : -2.05758681945015 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84190 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_032230 Tx_version : 3 Tx_start : 82358528 Tx_end : 82479239 Exon_count : 12 Overlapped_tx_length : 120711 Overlapped_CDS_length : 1812 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 82358528 Intersect_end : 82479239 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3308Exomiser_gene_pheno_score : 0.3308 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NDUFA12Gene_name : NDUFA12; LOEUF_bin : 8 GnomAD_pLI : 7.4270e-05 ExAC_pLI : 2.0160e-03 HI : . TS : . DDD_HI_percent : 38.84 ACMG : . ExAC_cnvZ : 0.30421492141188 ExAC_delZ : -0.639741332819543 ExAC_dupZ : 0.952828241320044 ExAC_synZ : -0.342180815805514 ExAC_misZ : 0.628827017277609 GenCC_disease : Leigh syndrome; Leigh syndrome with leukodystrophy; mitochondrial complex 1 deficiency, nuclear type 23 GenCC_moi : AR GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive GenCC_pmid : 21617257; 21617257[PMID]_22644603[PMID]; 28454995; 30369941; 33715266 NCBI_gene_ID : 55967 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_018838 Tx_version : 5 Tx_start : 94971332 Tx_end : 95003697 Exon_count : 4 Overlapped_tx_length : 32365 Overlapped_CDS_length : 438 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94971332 Intersect_end : 95003697 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:94971333-95003697P_loss_coord : 12:94971333-95003697 P_loss_source : morbid:NDUFA12 P_loss_phen : Mitochondrial complex I deficiency, nuclear type 23, 618244 (3) AR P_loss_hpo : . |
5P_snvindel_nb : 5 P_snvindel_phen : Mitochondrial_complex_1_deficiency,_nuclear_type_23 |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
COX6A1Gene_name : COX6A1; LOEUF_bin : 8 GnomAD_pLI : 2.3136e-03 ExAC_pLI : 6.0958e-02 HI : . TS : . DDD_HI_percent : 58.13 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.335311496838852 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.430375314989234 ExAC_misZ : -0.334692764357589 GenCC_disease : Charcot-Marie-Tooth disease recessive intermediate D GenCC_moi : AR GenCC_classification : Limited; Strong; Supportive GenCC_pmid : 10546875; 25152455; 25152455[PMID]; 26302975; 27549087 NCBI_gene_ID : 1337 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_004373 Tx_version : 4 Tx_start : 120438112 Tx_end : 120440730 Exon_count : 3 Overlapped_tx_length : 2618 Overlapped_CDS_length : 330 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120438112 Intersect_end : 120440730 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:120438113-120440730P_loss_coord : 12:120438113-120440730 P_loss_source : morbid:COX6A1 P_loss_phen : Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Charcot-Marie-Tooth_disease_recessive_intermediate_D |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AQP2Gene_name : AQP2; LOEUF_bin : 8 GnomAD_pLI : 2.4855e-06 ExAC_pLI : 4.1770e-06 HI : . TS : . DDD_HI_percent : 42.24 ACMG : . ExAC_cnvZ : 0.550901477986804 ExAC_delZ : 0.158850544975308 ExAC_dupZ : 0.660716475304841 ExAC_synZ : -0.224103452916141 ExAC_misZ : 1.61936783201938 GenCC_disease : diabetes insipidus, nephrogenic, autosomal; nephrogenic diabetes insipidus GenCC_moi : AD; AR GenCC_classification : Strong; Supportive GenCC_pmid : 11536078; 11929850; 12191971; 14599123; 16120822; 19585583; 20301356; 20301356[PMID]; 22427315; 23150186; 23409988; 26714855; 27156763; 9024277; 9402087; 9649557 NCBI_gene_ID : 359 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_000486 Tx_version : 6 Tx_start : 49950736 Tx_end : 49958878 Exon_count : 4 Overlapped_tx_length : 8142 Overlapped_CDS_length : 816 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49950736 Intersect_end : 49958878 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:49950737-49958878; 12:49954146-49955618P_loss_coord : 12:49950737-49958878; 12:49954146-49955618 P_loss_source : dbVar:nssv17172242; morbid:AQP2 P_loss_phen : Diabetes insipidus, nephrogenic, 2, 125800 (3) AR,AD P_loss_hpo : . |
28P_snvindel_nb : 28 P_snvindel_phen : Diabetes_insipidus,_nephrogenic,_autosomal; Nephrogenic_diabetes_insipidus |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GATCGene_name : GATC; LOEUF_bin : 8 GnomAD_pLI : 6.5888e-04 ExAC_pLI : 7.7902e-05 HI : . TS : . DDD_HI_percent : 55.41 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -0.158357140403191 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 1.06731644959735 ExAC_misZ : 1.25543038036296 GenCC_disease : combined oxidative phosphorylation deficiency 42 GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 30283131 NCBI_gene_ID : 283459 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_176818 Tx_version : 3 Tx_start : 120446443 Tx_end : 120463749 Exon_count : 4 Overlapped_tx_length : 17306 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120446443 Intersect_end : 120463749 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:120446444-120463749P_loss_coord : 12:120446444-120463749 P_loss_source : morbid:GATC P_loss_phen : Combined oxidative phosphorylation deficiency 42, 618839 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Cardiomyopathy,_mitochondrial; Combined_oxidative_phosphorylation_deficiency_42 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AQP6Gene_name : AQP6; LOEUF_bin : 6 GnomAD_pLI : 1.5875e-02 ExAC_pLI : 2.1143e-01 HI : . TS : . DDD_HI_percent : 68.48 ACMG : . ExAC_cnvZ : 0.951335139847982 ExAC_delZ : 0.826663214920356 ExAC_dupZ : 0.757183536447526 ExAC_synZ : -0.229996550020032 ExAC_misZ : 0.588797914847922 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 363 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001652 Tx_version : 4 Tx_start : 49972946 Tx_end : 49977139 Exon_count : 4 Overlapped_tx_length : 4193 Overlapped_CDS_length : 849 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49972946 Intersect_end : 49977139 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3409Exomiser_gene_pheno_score : 0.3409 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased total retina thickness Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001002031 Tx_version : 4 Tx_start : 53665169 Tx_end : 53676330 Exon_count : 5 Overlapped_tx_length : 11161 Overlapped_CDS_length : 474 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53665169 Intersect_end : 53676330 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3992Exomiser_gene_pheno_score : 0.3992 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GLIPR1Gene_name : GLIPR1; LOEUF_bin : 8 GnomAD_pLI : 2.0720e-14 ExAC_pLI : 1.0518e-09 HI : . TS : . DDD_HI_percent : 82.79 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.767281665212611 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.15982532999833 ExAC_misZ : -0.121832188100921 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11010 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_006851 Tx_version : 3 Tx_start : 75480754 Tx_end : 75503863 Exon_count : 6 Overlapped_tx_length : 23109 Overlapped_CDS_length : 801 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75480754 Intersect_end : 75503863 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3688Exomiser_gene_pheno_score : 0.3688 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal vitreous body morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ENDOUGene_name : ENDOU; LOEUF_bin : 7 GnomAD_pLI : 3.2354e-14 ExAC_pLI : 6.2232e-12 HI : . TS : . DDD_HI_percent : 54.47 ACMG : . ExAC_cnvZ : 0.927613374506759 ExAC_delZ : 0.249867666771578 ExAC_dupZ : 1.07533267706167 ExAC_synZ : 0.205677609334501 ExAC_misZ : -0.100514579559302 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8909 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001172439 Tx_version : 2 Tx_start : 47709733 Tx_end : 47725490 Exon_count : 10 Overlapped_tx_length : 15757 Overlapped_CDS_length : 1233 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47709733 Intersect_end : 47725490 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3482Exomiser_gene_pheno_score : 0.3482 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ASB8Gene_name : ASB8; LOEUF_bin : 7 GnomAD_pLI : 3.7670e-05 ExAC_pLI : 1.8029e-02 HI : . TS : . DDD_HI_percent : 25.56 ACMG : . ExAC_cnvZ : 0.485500931525332 ExAC_delZ : -0.193436921523648 ExAC_dupZ : 0.706896405462293 ExAC_synZ : 0.330745872965905 ExAC_misZ : 1.28001788412435 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140461 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001319296 Tx_version : 2 Tx_start : 48147788 Tx_end : 48157515 Exon_count : 5 Overlapped_tx_length : 9727 Overlapped_CDS_length : 867 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48147788 Intersect_end : 48157515 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3580Exomiser_gene_pheno_score : 0.3580 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased total retina thickness Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT6CGene_name : KRT6C; LOEUF_bin : 9 GnomAD_pLI : 3.8079e-22 ExAC_pLI : 4.1052e-12 HI : . TS : . DDD_HI_percent : 78.64 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.90306070526585 ExAC_misZ : 1.70994579925571 GenCC_disease : palmoplantar keratoderma, nonepidermolytic, focal or diffuse GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 19609311; 21801157; 21801157[PMID]_19609311[PMID]; 23662636; 26301947; 31823354 NCBI_gene_ID : 3853 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_173086 Tx_version : 5 Tx_start : 52468515 Tx_end : 52473805 Exon_count : 9 Overlapped_tx_length : 5290 Overlapped_CDS_length : 1695 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52468515 Intersect_end : 52473805 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:52468516-52473805P_loss_coord : 12:52468516-52473805 P_loss_source : morbid:KRT6C P_loss_phen : Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3) AD P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Palmoplantar_keratoderma,_nonepidermolytic,_focal_or_diffuse |
dbVarB_loss_source : dbVar B_loss_coord : chr12:52450755-52475085 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_016053 Tx_version : 4 Tx_start : 102012839 Tx_end : 102061991 Exon_count : 7 Overlapped_tx_length : 49152 Overlapped_CDS_length : 585 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102012839 Intersect_end : 102061991 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3831Exomiser_gene_pheno_score : 0.3831 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_011538056 Tx_version : 3 Tx_start : 57055642 Tx_end : 57088627 Exon_count : 9 Overlapped_tx_length : 32985 Overlapped_CDS_length : 1479 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57055642 Intersect_end : 57088627 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3831Exomiser_gene_pheno_score : 0.3831 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_018169 Tx_version : 4 Tx_start : 31959414 Tx_end : 31993107 Exon_count : 6 Overlapped_tx_length : 33693 Overlapped_CDS_length : 5244 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31959414 Intersect_end : 31993107 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3831Exomiser_gene_pheno_score : 0.3831 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DBX2Gene_name : DBX2; LOEUF_bin : 7 GnomAD_pLI : 6.0563e-06 ExAC_pLI : 4.4184e-08 HI : . TS : . DDD_HI_percent : 58.99 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.167592780560724 ExAC_misZ : 0.272081952659378 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 440097 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001004329 Tx_version : 3 Tx_start : 45014671 Tx_end : 45051099 Exon_count : 4 Overlapped_tx_length : 36428 Overlapped_CDS_length : 1020 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45014671 Intersect_end : 45051099 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3407Exomiser_gene_pheno_score : 0.3407 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal bone structure Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PMCHGene_name : PMCH; LOEUF_bin : 6 GnomAD_pLI : 1.1486e-01 ExAC_pLI : 1.1529e-01 HI : . TS : . DDD_HI_percent : 12.53 ACMG : . ExAC_cnvZ : 0.418012676788732 ExAC_delZ : 0.305147527820776 ExAC_dupZ : 0.333499259512901 ExAC_synZ : -1.11308426236007 ExAC_misZ : -0.951359829275965 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5367 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_002674 Tx_version : 4 Tx_start : 102196458 Tx_end : 102197833 Exon_count : 3 Overlapped_tx_length : 1375 Overlapped_CDS_length : 498 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102196458 Intersect_end : 102197833 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3308Exomiser_gene_pheno_score : 0.3308 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:102057222-102377222 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : XM_006719694 Tx_version : 4 Tx_start : 119989235 Tx_end : 120094495 Exon_count : 11 Overlapped_tx_length : 105260 Overlapped_CDS_length : 1878 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119989235 Intersect_end : 120094495 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3844Exomiser_gene_pheno_score : 0.3844 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; short tibia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZNF385AGene_name : ZNF385A; LOEUF_bin : 2 GnomAD_pLI : 2.7980e-01 ExAC_pLI : 8.4855e-01 HI : . TS : . DDD_HI_percent : 43.8 ACMG : . ExAC_cnvZ : 0.925944983140224 ExAC_delZ : 0.456809310403131 ExAC_dupZ : 0.830192144203722 ExAC_synZ : 0.505759081971224 ExAC_misZ : 2.22898774435203 GenCC_disease : Tourette syndrome GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : 28472652 NCBI_gene_ID : 25946 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_011538168 Tx_version : 3 Tx_start : 54369135 Tx_end : 54391298 Exon_count : 9 Overlapped_tx_length : 22163 Overlapped_CDS_length : 1260 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54369135 Intersect_end : 54391298 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.2740Exomiser_gene_pheno_score : 0.2740 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal megakaryocyte morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CEP83Gene_name : CEP83; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : 24.79 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : nephronophthisis 18; nephronophthisis 2 GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 23530209; 24882706; 24882706[PMID] NCBI_gene_ID : 51134 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : XM_047428923 Tx_version : 1 Tx_start : 94265661 Tx_end : 94459867 Exon_count : 17 Overlapped_tx_length : 194206 Overlapped_CDS_length : 2106 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94265661 Intersect_end : 94459867 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:94400831-94412490P_loss_coord : 12:94400831-94412490 P_loss_source : dbVar:nssv18786794 P_loss_phen : . P_loss_hpo : . |
30P_snvindel_nb : 30 P_snvindel_phen : Nephronophthisis; Nephronophthisis_18 |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
WASHC4Gene_name : WASHC4; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 43; schizophrenia GenCC_moi : AR GenCC_classification : Limited; No Known Disease Relationship; Supportive GenCC_pmid : 21498477[PMID]; 27694994 NCBI_gene_ID : 23325 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001293640 Tx_version : 2 Tx_start : 105107730 Tx_end : 105169130 Exon_count : 33 Overlapped_tx_length : 61400 Overlapped_CDS_length : 3525 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105107730 Intersect_end : 105169130 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
12:105118480-105169130P_loss_coord : 12:105118480-105169130 P_loss_source : morbid:WASHC4 P_loss_phen : Intellectual developmental disorder, AR 43, 615817 (3) AR P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RXYLT1Gene_name : RXYLT1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : muscle-eye-brain disease; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10; muscular dystrophy-dystroglycanopathy, type A GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 23217329; 23217329[PMID]_23519211[PMID]; 23519211 NCBI_gene_ID : 10329 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : 5'UTR-3'UTR Tx : NM_014254 Tx_version : 3 Tx_start : 63779908 Tx_end : 63809562 Exon_count : 6 Overlapped_tx_length : 29654 Overlapped_CDS_length : 1332 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 63779908 Intersect_end : 63809562 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:63782541-63809562P_loss_coord : 12:63782541-63809562 P_loss_source : morbid:RXYLT1 P_loss_phen : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3) AR P_loss_hpo : . |
25P_snvindel_nb : 25 P_snvindel_phen : Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_10; Walker-Warburg_congenital_muscular_dystrophy |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CFAP251Gene_name : CFAP251; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : non-syndromic male infertility due to sperm motility disorder; spermatogenic failure 33 GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 30122540; 30122540[PMID]; 30122541; 30310178 NCBI_gene_ID : 144406 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_144668 Tx_version : 6 Tx_start : 121918591 Tx_end : 122003919 Exon_count : 22 Overlapped_tx_length : 85328 Overlapped_CDS_length : 3450 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121918591 Intersect_end : 122003919 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
12:121918592-122003919; 12:121994802-122002722P_loss_coord : 12:121918592-122003919; 12:121994802-122002722 P_loss_source : dbVar:nssv16596335; nssv16596345; morbid:CFAP251 P_loss_phen : Spermatogenic failure 33, 618152 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : CFAP251-related_condition |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MTRFRGene_name : MTRFR; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : Leigh syndrome; combined oxidative phosphorylation defect type 7 GenCC_moi : AR GenCC_classification : Definitive; Moderate; Strong GenCC_pmid : 18853439; 20598281; 22821833; 23188110; 24080142; 24198383; 24284555; 24424123; 25995486; 26380172; 27858754; 27977873 NCBI_gene_ID : 91574 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_047429877 Tx_version : 1 Tx_start : 123232913 Tx_end : 123257960 Exon_count : 3 Overlapped_tx_length : 25047 Overlapped_CDS_length : 501 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123232913 Intersect_end : 123257960 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
12:123242628-123257960; 12:123252158-12325584[...]P_loss_coord : 12:123242628-123257960; 12:123252158-123255846; 12:123252159-123255845; 12:123253675-123253956; 12:123253676-123253956; 12:123256794-123257031 P_loss_source : CLN:623680; dbVar:nssv15755140; dbVar:nssv16207668; dbVar:nssv16216512; dbVar:nssv18790025; morbid:MTRFR P_loss_phen : Combined oxidative phosphorylation deficiency 7, 613559 (3) AR; Spastic paraplegia 55, AR, 615035 (3) AR; Neurodevelopmental_disorder P_loss_hpo : . |
10P_snvindel_nb : 10 P_snvindel_phen : Abnormal_brain_morphology; Combined_oxidative_phosphorylation_defect_type_7; Epileptic_encephalopathy; Hereditary_spastic_paraplegia_55; Spastic_paraplegia |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SMAGPGene_name : SMAGP; LOEUF_bin : 7 GnomAD_pLI : 2.5441e-01 ExAC_pLI : 4.5175e-02 HI : . TS : . DDD_HI_percent : 39.48 ACMG : . ExAC_cnvZ : 0.739166126957067 ExAC_delZ : 0.585566111726125 ExAC_dupZ : 0.585505599943564 ExAC_synZ : -0.154467649364699 ExAC_misZ : -0.617542889503422 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57228 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001031628 Tx_version : 2 Tx_start : 51244557 Tx_end : 51270415 Exon_count : 4 Overlapped_tx_length : 25858 Overlapped_CDS_length : 294 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51244557 Intersect_end : 51270415 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3374Exomiser_gene_pheno_score : 0.3374 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal retina outer nuclear layer morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PA2G4Gene_name : PA2G4; LOEUF_bin : 0 GnomAD_pLI : 9.9876e-01 ExAC_pLI : 9.9800e-01 HI : . TS : . DDD_HI_percent : 3.25 ACMG : . ExAC_cnvZ : 1.53090036516443 ExAC_delZ : 1.0872516677678 ExAC_dupZ : 1.2973466879816 ExAC_synZ : 1.34868170216625 ExAC_misZ : 3.91733701344324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5036 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_006191 Tx_version : 3 Tx_start : 56104558 Tx_end : 56113910 Exon_count : 13 Overlapped_tx_length : 9352 Overlapped_CDS_length : 1185 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56104558 Intersect_end : 56113910 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.2418Exomiser_gene_pheno_score : 0.2418 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; kinked tail Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PMELGene_name : PMEL; LOEUF_bin : 7 GnomAD_pLI : 3.0571e-18 ExAC_pLI : 1.1236e-07 HI : . TS : . DDD_HI_percent : 43.54 ACMG : . ExAC_cnvZ : 0.755677372686922 ExAC_delZ : 0.151648185345064 ExAC_dupZ : 0.980163611937405 ExAC_synZ : -1.25408397060279 ExAC_misZ : -0.305744637971398 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6490 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001200054 Tx_version : 1 Tx_start : 55954104 Tx_end : 55966062 Exon_count : 11 Overlapped_tx_length : 11958 Overlapped_CDS_length : 2007 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55954104 Intersect_end : 55966062 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3235Exomiser_gene_pheno_score : 0.3235 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal retina melanin granule morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMED2Gene_name : TMED2; LOEUF_bin : 1 GnomAD_pLI : 8.9231e-01 ExAC_pLI : 7.9768e-01 HI : . TS : . DDD_HI_percent : 22.43 ACMG : . ExAC_cnvZ : 0.598964679824532 ExAC_delZ : 0.454372397849926 ExAC_dupZ : 0.419767192978245 ExAC_synZ : 0.28879163546412 ExAC_misZ : 2.45289414754546 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10959 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001321445 Tx_version : 2 Tx_start : 123584551 Tx_end : 123598582 Exon_count : 5 Overlapped_tx_length : 14031 Overlapped_CDS_length : 627 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123584551 Intersect_end : 123598582 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.2290Exomiser_gene_pheno_score : 0.2290 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal tail bud morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : NR_003039 Tx_version : 3 Tx_start : 54608186 Tx_end : 54610462 Exon_count : 4 Overlapped_tx_length : 2276 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54608186 Intersect_end : 54610462 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3482Exomiser_gene_pheno_score : 0.3482 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal retina morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SRGAP1Gene_name : SRGAP1; LOEUF_bin : 0 GnomAD_pLI : 9.9845e-01 ExAC_pLI : 9.8785e-01 HI : . TS : . DDD_HI_percent : 24.51 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.37281637800983 ExAC_misZ : 1.40740701047359 GenCC_disease : thyroid cancer, nonmedullary, 2 GenCC_moi : AD GenCC_classification : No Known Disease Relationship GenCC_pmid : 23539728 NCBI_gene_ID : 57522 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : 5'UTR-3'UTR Tx : NM_020762 Tx_version : 4 Tx_start : 63844699 Tx_end : 64162217 Exon_count : 22 Overlapped_tx_length : 317518 Overlapped_CDS_length : 3258 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 63844699 Intersect_end : 64162217 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZCCHC8Gene_name : ZCCHC8; LOEUF_bin : 1 GnomAD_pLI : 9.6584e-01 ExAC_pLI : 7.7782e-01 HI : . TS : . DDD_HI_percent : 60.34 ACMG : . ExAC_cnvZ : -0.640666890212223 ExAC_delZ : -0.775856378296674 ExAC_dupZ : -0.514662483746992 ExAC_synZ : 0.179474746672569 ExAC_misZ : 1.34620072659443 GenCC_disease : intellectual disability; pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : 31488579 NCBI_gene_ID : 55596 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_017612 Tx_version : 5 Tx_start : 122471599 Tx_end : 122500932 Exon_count : 14 Overlapped_tx_length : 29333 Overlapped_CDS_length : 2124 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122471599 Intersect_end : 122500932 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LRRK2Gene_name : LRRK2; LOEUF_bin : 3 GnomAD_pLI : 2.5757e-30 ExAC_pLI : 7.5565e-14 HI : . TS : . DDD_HI_percent : 14.19 ACMG : . ExAC_cnvZ : -1.37671446826693 ExAC_delZ : -1.75047710148942 ExAC_dupZ : -1.4772475983265 ExAC_synZ : -1.60298268256947 ExAC_misZ : 0.0037875714476121 GenCC_disease : Parkinson disease; autosomal dominant Parkinson disease 8; hereditary late onset Parkinson disease GenCC_moi : AD GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 15726496; 16251215; 17200152; 17447891; 20457952; 20642453; 22166458[PMID]; 22575234; 26869347 NCBI_gene_ID : 120892 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_198578 Tx_version : 4 Tx_start : 40224996 Tx_end : 40369285 Exon_count : 51 Overlapped_tx_length : 144289 Overlapped_CDS_length : 7584 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40224996 Intersect_end : 40369285 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
5P_snvindel_nb : 5 P_snvindel_phen : Autosomal_dominant_Parkinson_disease_8; Inborn_genetic_diseases; LRRK2-related_condition; Parkinson_disease,_late-onset; Young-onset_Parkinson_disease |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CRY1Gene_name : CRY1; LOEUF_bin : 4 GnomAD_pLI : 1.6620e-09 ExAC_pLI : 4.2428e-07 HI : . TS : . DDD_HI_percent : 7.03 ACMG : . ExAC_cnvZ : 0.852942201895044 ExAC_delZ : 0.015698223366495 ExAC_dupZ : 1.21519406002001 ExAC_synZ : -0.865554003123174 ExAC_misZ : 1.9635090598256 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1407 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001413458 Tx_version : 1 Tx_start : 106991363 Tx_end : 107093549 Exon_count : 13 Overlapped_tx_length : 102186 Overlapped_CDS_length : 1821 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106991363 Intersect_end : 107093549 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
COQ5Gene_name : COQ5; LOEUF_bin : 5 GnomAD_pLI : 2.8412e-05 ExAC_pLI : 7.9502e-05 HI : . TS : . DDD_HI_percent : 34.28 ACMG : . ExAC_cnvZ : 0.304158155792296 ExAC_delZ : 0.132769107648441 ExAC_dupZ : 0.319757590612837 ExAC_synZ : 0.687253114475326 ExAC_misZ : -0.0961179806392626 GenCC_disease : coenzyme q10 deficiency, primary, 9 GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 21937992; 23597238; 29044765; 9083048 NCBI_gene_ID : 84274 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_032314 Tx_version : 4 Tx_start : 120503278 Tx_end : 120529158 Exon_count : 7 Overlapped_tx_length : 25880 Overlapped_CDS_length : 984 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120503278 Intersect_end : 120529158 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT71Gene_name : KRT71; LOEUF_bin : 5 GnomAD_pLI : 9.0110e-07 ExAC_pLI : 3.1274e-08 HI : . TS : . DDD_HI_percent : 49.35 ACMG : . ExAC_cnvZ : 1.81243065952555 ExAC_delZ : 1.38787505504073 ExAC_dupZ : 1.56858603557367 ExAC_synZ : -0.27360291918842 ExAC_misZ : -0.814053816524328 GenCC_disease : hypotrichosis 13; isolated familial wooly hair disorder GenCC_moi : AD GenCC_classification : Limited; Supportive GenCC_pmid : 20346438; 22592156; 22592156[PMID]; 30444027; 30456859 NCBI_gene_ID : 112802 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_033448 Tx_version : 3 Tx_start : 52543908 Tx_end : 52553145 Exon_count : 9 Overlapped_tx_length : 9237 Overlapped_CDS_length : 1572 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52543908 Intersect_end : 52553145 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MYO1HGene_name : MYO1H; LOEUF_bin : 5 GnomAD_pLI : 2.0646e-25 ExAC_pLI : 2.9161e-17 HI : . TS : . DDD_HI_percent : 55.04 ACMG : . ExAC_cnvZ : -0.0499801737271678 ExAC_delZ : -0.538256932469393 ExAC_dupZ : 0.222125226820794 ExAC_synZ : -0.223336604756845 ExAC_misZ : -1.10954097141219 GenCC_disease : central hypoventilation syndrome, congenital, 2, and autonomic dysfunction; congenital central hypoventilation syndrome GenCC_moi : AD; AR GenCC_classification : Limited; Supportive GenCC_pmid : 28779001; 28779001[PMID]; 30366217 NCBI_gene_ID : 283446 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_011538223 Tx_version : 3 Tx_start : 109310467 Tx_end : 109448379 Exon_count : 34 Overlapped_tx_length : 137912 Overlapped_CDS_length : 3135 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109310467 Intersect_end : 109448379 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.05 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TIMELESSGene_name : TIMELESS; LOEUF_bin : 5 GnomAD_pLI : 9.8476e-35 ExAC_pLI : 1.0355e-25 HI : . TS : . DDD_HI_percent : 23.36 ACMG : . ExAC_cnvZ : 0.919722382520402 ExAC_delZ : 1.52205031582123 ExAC_dupZ : 0.446777062165317 ExAC_synZ : -1.09357460637442 ExAC_misZ : -0.66079962508498 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8914 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_003920 Tx_version : 5 Tx_start : 56416362 Tx_end : 56449426 Exon_count : 29 Overlapped_tx_length : 33064 Overlapped_CDS_length : 3627 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56416362 Intersect_end : 56449426 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCDC62Gene_name : CCDC62; LOEUF_bin : 6 GnomAD_pLI : 4.3887e-16 ExAC_pLI : 1.4353e-12 HI : . TS : . DDD_HI_percent : 69.95 ACMG : . ExAC_cnvZ : -0.498035422632001 ExAC_delZ : -0.818841512769793 ExAC_dupZ : -0.315768842093673 ExAC_synZ : 0.0440228299461107 ExAC_misZ : 0.623400998418811 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84660 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_201435 Tx_version : 5 Tx_start : 122774571 Tx_end : 122827528 Exon_count : 13 Overlapped_tx_length : 52957 Overlapped_CDS_length : 2055 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122774571 Intersect_end : 122827528 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC12Gene_name : HOXC12; LOEUF_bin : 9 GnomAD_pLI : 2.4299e-09 ExAC_pLI : 1.8910e-09 HI : . TS : . DDD_HI_percent : 45.67 ACMG : . ExAC_cnvZ : 0.776130821076382 ExAC_delZ : 0.346548472030521 ExAC_dupZ : 0.691042601679915 ExAC_synZ : 2.47726381903736 ExAC_misZ : 2.31869643428366 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3228 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_173860 Tx_version : 3 Tx_start : 53954902 Tx_end : 53958956 Exon_count : 2 Overlapped_tx_length : 4054 Overlapped_CDS_length : 849 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53954902 Intersect_end : 53958956 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.2418Exomiser_gene_pheno_score : 0.2418 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; abnormal tail length Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
COX14Gene_name : COX14; LOEUF_bin : 9 GnomAD_pLI : 3.5730e-01 ExAC_pLI : 1.9325e-01 HI : 30 TS : 0 DDD_HI_percent : 44.4 ACMG : . ExAC_cnvZ : 1.15289100235254 ExAC_delZ : 0.700702557244614 ExAC_dupZ : 1.02786265499863 ExAC_synZ : -1.1847946336952 ExAC_misZ : -0.408506055208647 GenCC_disease : cytochrome-c oxidase deficiency disease; mitochondrial disease GenCC_moi : AR GenCC_classification : Limited; Supportive GenCC_pmid : 22243966; 22243966[PMID] NCBI_gene_ID : 84987 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001257133 Tx_version : 2 Tx_start : 50112235 Tx_end : 50120453 Exon_count : 3 Overlapped_tx_length : 8218 Overlapped_CDS_length : 174 Overlapped_CDS_percent : 42 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50112235 Intersect_end : 50120453 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DCTN2Gene_name : DCTN2; LOEUF_bin : 0 GnomAD_pLI : 9.9653e-01 ExAC_pLI : 9.9637e-01 HI : . TS : . DDD_HI_percent : 17.06 ACMG : . ExAC_cnvZ : 0.746723696377135 ExAC_delZ : 0.861677190047208 ExAC_dupZ : 0.470715175219502 ExAC_synZ : -0.349747397524666 ExAC_misZ : 1.76256344162249 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10540 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001348065 Tx_version : 2 Tx_start : 57530050 Tx_end : 57546859 Exon_count : 15 Overlapped_tx_length : 16809 Overlapped_CDS_length : 1341 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57530050 Intersect_end : 57546859 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ESPL1Gene_name : ESPL1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 31.33 ACMG : . ExAC_cnvZ : 1.05275355758444 ExAC_delZ : 1.4064176448262 ExAC_dupZ : 0.654415413001456 ExAC_synZ : -0.0621167495399135 ExAC_misZ : 4.36364628599714 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9700 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_012291 Tx_version : 5 Tx_start : 53268298 Tx_end : 53293638 Exon_count : 31 Overlapped_tx_length : 25340 Overlapped_CDS_length : 6363 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53268298 Intersect_end : 53293638 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM132BGene_name : TMEM132B; LOEUF_bin : 0 GnomAD_pLI : 9.9876e-01 ExAC_pLI : 4.5583e-01 HI : . TS : . DDD_HI_percent : 65.33 ACMG : . ExAC_cnvZ : 0.873732646966522 ExAC_delZ : 1.0784750143271 ExAC_dupZ : 0.560330612589067 ExAC_synZ : 0.36052088670746 ExAC_misZ : 0.910909487043497 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 114795 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31-q24.32 Location2 : 5'UTR-3'UTR Tx : NM_001366854 Tx_version : 1 Tx_start : 125186385 Tx_end : 125662369 Exon_count : 9 Overlapped_tx_length : 475984 Overlapped_CDS_length : 3252 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125186385 Intersect_end : 125662369 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GIT2Gene_name : GIT2; LOEUF_bin : 0 GnomAD_pLI : 9.9793e-01 ExAC_pLI : 9.7063e-01 HI : . TS : . DDD_HI_percent : 25.24 ACMG : . ExAC_cnvZ : 0.804289662403935 ExAC_delZ : 0.0153606112642817 ExAC_dupZ : 1.19590974781314 ExAC_synZ : 0.434817419989708 ExAC_misZ : 2.51278533032039 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9815 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_057169 Tx_version : 5 Tx_start : 109929803 Tx_end : 109996368 Exon_count : 20 Overlapped_tx_length : 66565 Overlapped_CDS_length : 2280 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109929803 Intersect_end : 109996368 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CPSF6Gene_name : CPSF6; LOEUF_bin : 0 GnomAD_pLI : 9.9982e-01 ExAC_pLI : 9.9911e-01 HI : . TS : . DDD_HI_percent : 9.94 ACMG : . ExAC_cnvZ : 0.243949161551534 ExAC_delZ : 0.615305429906081 ExAC_dupZ : -0.0557336557271168 ExAC_synZ : -0.14793867721865 ExAC_misZ : 4.46679475741089 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11052 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : XM_005268588 Tx_version : 4 Tx_start : 69239568 Tx_end : 69274358 Exon_count : 11 Overlapped_tx_length : 34790 Overlapped_CDS_length : 1770 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69239568 Intersect_end : 69274358 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RANGene_name : RAN; LOEUF_bin : 0 GnomAD_pLI : 9.7576e-01 ExAC_pLI : 9.5594e-01 HI : . TS : . DDD_HI_percent : 5.03 ACMG : . ExAC_cnvZ : 0.259836161954423 ExAC_delZ : -0.125015950102238 ExAC_dupZ : 0.405001152440793 ExAC_synZ : -2.1013476341354 ExAC_misZ : 3.81025834655464 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5901 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : NM_006325 Tx_version : 5 Tx_start : 130872065 Tx_end : 130877678 Exon_count : 7 Overlapped_tx_length : 5613 Overlapped_CDS_length : 651 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130872065 Intersect_end : 130877678 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NAP1L1Gene_name : NAP1L1; LOEUF_bin : 0 GnomAD_pLI : 9.9941e-01 ExAC_pLI : 9.9388e-01 HI : . TS : . DDD_HI_percent : 5.15 ACMG : . ExAC_cnvZ : 1.13101165441946 ExAC_delZ : 0.475592799999931 ExAC_dupZ : 1.21953700852534 ExAC_synZ : 0.950664762521831 ExAC_misZ : 1.60899661599727 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4673 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_004537 Tx_version : 7 Tx_start : 76036584 Tx_end : 76084685 Exon_count : 15 Overlapped_tx_length : 48101 Overlapped_CDS_length : 1176 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76036584 Intersect_end : 76084685 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SBNO1Gene_name : SBNO1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 21.06 ACMG : . ExAC_cnvZ : -0.0527399530618892 ExAC_delZ : 0.664211513008673 ExAC_dupZ : -0.469654475770328 ExAC_synZ : -1.17492037709547 ExAC_misZ : 3.55381554009447 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55206 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001167856 Tx_version : 3 Tx_start : 123289108 Tx_end : 123364847 Exon_count : 32 Overlapped_tx_length : 75739 Overlapped_CDS_length : 4182 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123289108 Intersect_end : 123364847 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZDHHC17Gene_name : ZDHHC17; LOEUF_bin : 0 GnomAD_pLI : 9.9989e-01 ExAC_pLI : 9.9839e-01 HI : . TS : . DDD_HI_percent : 6.79 ACMG : . ExAC_cnvZ : 0.70492024747324 ExAC_delZ : 0.309416241024649 ExAC_dupZ : 0.737412240087183 ExAC_synZ : 0.139264609036197 ExAC_misZ : 1.56133828343068 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23390 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_015336 Tx_version : 4 Tx_start : 76764114 Tx_end : 76853696 Exon_count : 17 Overlapped_tx_length : 89582 Overlapped_CDS_length : 1899 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76764114 Intersect_end : 76853696 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PITPNM2Gene_name : PITPNM2; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9999e-01 HI : . TS : . DDD_HI_percent : 48 ACMG : . ExAC_cnvZ : 0.0915482440210239 ExAC_delZ : 1.05236899947949 ExAC_dupZ : -0.353879982748612 ExAC_synZ : 1.94470398079223 ExAC_misZ : 4.60525332519286 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57605 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_047429200 Tx_version : 1 Tx_start : 122983479 Tx_end : 123151090 Exon_count : 27 Overlapped_tx_length : 167611 Overlapped_CDS_length : 4308 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122983479 Intersect_end : 123151090 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SFSWAPGene_name : SFSWAP; LOEUF_bin : 0 GnomAD_pLI : 9.9999e-01 ExAC_pLI : 9.9943e-01 HI : . TS : . DDD_HI_percent : 66.02 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.236681290429628 ExAC_misZ : 3.9882471542894 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6433 |
txStart-intron11Location : txStart-intron11 CytoBand : q24.33 Location2 : 5'UTR-CDS Tx : XM_011538655 Tx_version : 3 Tx_start : 131711089 Tx_end : 131783328 Exon_count : 15 Overlapped_tx_length : 50581 Overlapped_CDS_length : 1720 Overlapped_CDS_percent : 68 Frameshift : yes Dist_nearest_SS : 2785 Nearest_SS_type : 3' Intersect_start : 131711089 Intersect_end : 131761670 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SVOPGene_name : SVOP; LOEUF_bin : 0 GnomAD_pLI : 9.9938e-01 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 28.62 ACMG : . ExAC_cnvZ : -1.28957023587184 ExAC_delZ : 0.601806774917476 ExAC_dupZ : -1.85000593614298 ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55530 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_018711 Tx_version : 5 Tx_start : 108907740 Tx_end : 109021068 Exon_count : 16 Overlapped_tx_length : 113328 Overlapped_CDS_length : 1647 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108907740 Intersect_end : 109021068 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MAP3K12Gene_name : MAP3K12; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9998e-01 HI : . TS : . DDD_HI_percent : 24.82 ACMG : . ExAC_cnvZ : 1.4387546208772 ExAC_delZ : 0.987651690783848 ExAC_dupZ : 1.23655484485106 ExAC_synZ : -0.843126297109948 ExAC_misZ : 2.9305282426525 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7786 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_011538725 Tx_version : 4 Tx_start : 53479668 Tx_end : 53501539 Exon_count : 14 Overlapped_tx_length : 21871 Overlapped_CDS_length : 2679 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53479668 Intersect_end : 53501539 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM132DGene_name : TMEM132D; LOEUF_bin : 0 GnomAD_pLI : 9.9907e-01 ExAC_pLI : 9.9901e-01 HI : . TS : . DDD_HI_percent : 79.41 ACMG : . ExAC_cnvZ : -0.764392483873001 ExAC_delZ : 0.0318310426670483 ExAC_dupZ : -1.06174135558274 ExAC_synZ : -0.986588659760716 ExAC_misZ : 1.20678916364238 GenCC_disease : intellectual disability GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 121256 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : NM_133448 Tx_version : 3 Tx_start : 129071725 Tx_end : 129904025 Exon_count : 9 Overlapped_tx_length : 832300 Overlapped_CDS_length : 3300 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129071725 Intersect_end : 129904025 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AGAP2Gene_name : AGAP2; LOEUF_bin : 0 GnomAD_pLI : 9.9816e-01 ExAC_pLI : 9.9922e-01 HI : . TS : . DDD_HI_percent : 37.07 ACMG : . ExAC_cnvZ : -0.461122624028415 ExAC_delZ : 1.08785157891829 ExAC_dupZ : -1.0398547672196 ExAC_synZ : 3.03581597932753 ExAC_misZ : 5.74547005489691 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 116986 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_001122772 Tx_version : 3 Tx_start : 57725196 Tx_end : 57738742 Exon_count : 19 Overlapped_tx_length : 13546 Overlapped_CDS_length : 3579 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57725196 Intersect_end : 57738742 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
R3HDM2Gene_name : R3HDM2; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9593e-01 HI : . TS : . DDD_HI_percent : 13.9 ACMG : . ExAC_cnvZ : 1.32217287689442 ExAC_delZ : 0.847611387580096 ExAC_dupZ : 1.17172016120031 ExAC_synZ : 1.73850893813833 ExAC_misZ : 1.73147836635056 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22864 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_047428506 Tx_version : 1 Tx_start : 57253763 Tx_end : 57430619 Exon_count : 27 Overlapped_tx_length : 176856 Overlapped_CDS_length : 3300 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57253763 Intersect_end : 57430619 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PRPF40BGene_name : PRPF40B; LOEUF_bin : 0 GnomAD_pLI : 9.9963e-01 ExAC_pLI : 9.8865e-01 HI : . TS : . DDD_HI_percent : 22.54 ACMG : . ExAC_cnvZ : 1.059112366465 ExAC_delZ : 1.1231910933012 ExAC_dupZ : 0.857070465703291 ExAC_synZ : -0.989504304852223 ExAC_misZ : 0.541181696867802 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 25766 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_006719324 Tx_version : 5 Tx_start : 49624824 Tx_end : 49644665 Exon_count : 25 Overlapped_tx_length : 19841 Overlapped_CDS_length : 2868 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49624824 Intersect_end : 49644665 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PCBP2Gene_name : PCBP2; LOEUF_bin : 0 GnomAD_pLI : 9.9617e-01 ExAC_pLI : 9.8703e-01 HI : . TS : . DDD_HI_percent : 4.18 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.624537673065402 ExAC_misZ : 4.5557539276807 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5094 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_005016 Tx_version : 6 Tx_start : 53452101 Tx_end : 53481162 Exon_count : 15 Overlapped_tx_length : 29061 Overlapped_CDS_length : 1101 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53452101 Intersect_end : 53481162 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HCFC2Gene_name : HCFC2; LOEUF_bin : 0 GnomAD_pLI : 9.9989e-01 ExAC_pLI : 9.9447e-01 HI : . TS : . DDD_HI_percent : 22.88 ACMG : . ExAC_cnvZ : 1.14267539159899 ExAC_delZ : 1.01926040816707 ExAC_dupZ : 0.856280208653185 ExAC_synZ : 0.98928094598585 ExAC_misZ : 3.75167501340109 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 29915 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_013320 Tx_version : 3 Tx_start : 104064530 Tx_end : 104106524 Exon_count : 15 Overlapped_tx_length : 41994 Overlapped_CDS_length : 2379 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104064530 Intersect_end : 104106524 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCT2Gene_name : CCT2; LOEUF_bin : 0 GnomAD_pLI : 9.9853e-01 ExAC_pLI : 9.9950e-01 HI : . TS : . DDD_HI_percent : 4.82 ACMG : . ExAC_cnvZ : 0.591088189163156 ExAC_delZ : 0.974756329478559 ExAC_dupZ : 0.225016298761884 ExAC_synZ : -0.185418698391165 ExAC_misZ : 0.832416635714372 GenCC_disease : Leber congenital amaurosis; Leber congenital amaurosis 9 GenCC_moi : AR GenCC_classification : Limited; Strong GenCC_pmid : 27645772 NCBI_gene_ID : 10576 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_006431 Tx_version : 3 Tx_start : 69585458 Tx_end : 69601570 Exon_count : 16 Overlapped_tx_length : 16112 Overlapped_CDS_length : 1608 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69585458 Intersect_end : 69601570 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RFX4Gene_name : RFX4; LOEUF_bin : 0 GnomAD_pLI : 9.9999e-01 ExAC_pLI : 9.9966e-01 HI : . TS : . DDD_HI_percent : 18.73 ACMG : . ExAC_cnvZ : 0.624685126143477 ExAC_delZ : 0.703356288841523 ExAC_dupZ : 0.437757670239365 ExAC_synZ : 0.323129782409199 ExAC_misZ : 2.28087302554183 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5992 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001206691 Tx_version : 2 Tx_start : 106601147 Tx_end : 106762803 Exon_count : 18 Overlapped_tx_length : 161656 Overlapped_CDS_length : 2235 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106601147 Intersect_end : 106762803 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
EIF4BGene_name : EIF4B; LOEUF_bin : 0 GnomAD_pLI : 9.9999e-01 ExAC_pLI : 9.9999e-01 HI : . TS : . DDD_HI_percent : 30.89 ACMG : . ExAC_cnvZ : -0.40280533740577 ExAC_delZ : 0.867001512162166 ExAC_dupZ : -0.900327243195131 ExAC_synZ : -0.0264485140856293 ExAC_misZ : 3.17386764509686 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1975 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001300821 Tx_version : 3 Tx_start : 53006455 Tx_end : 53042215 Exon_count : 15 Overlapped_tx_length : 35760 Overlapped_CDS_length : 1851 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53006455 Intersect_end : 53042215 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ANKS1BGene_name : ANKS1B; LOEUF_bin : 0 GnomAD_pLI : 9.9998e-01 ExAC_pLI : 9.9277e-01 HI : . TS : . DDD_HI_percent : 3.1 ACMG : . ExAC_cnvZ : -0.984996866248863 ExAC_delZ : -1.4401620437535 ExAC_dupZ : -0.801770171411122 ExAC_synZ : -0.424542011319708 ExAC_misZ : 2.07799530227903 GenCC_disease : complex neurodevelopmental disorder GenCC_moi : AD GenCC_classification : Limited; Moderate GenCC_pmid : 31388001 NCBI_gene_ID : 56899 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001352186 Tx_version : 2 Tx_start : 98743973 Tx_end : 99984936 Exon_count : 27 Overlapped_tx_length : 1240963 Overlapped_CDS_length : 3858 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98743973 Intersect_end : 99984936 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:99772923-99782097P_loss_coord : 12:99772923-99782097 P_loss_source : dbVar:nssv17649976 P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CDK17Gene_name : CDK17; LOEUF_bin : 0 GnomAD_pLI : 9.9947e-01 ExAC_pLI : 9.8884e-01 HI : . TS : . DDD_HI_percent : 11.08 ACMG : . ExAC_cnvZ : 1.12830094752822 ExAC_delZ : 1.01924022135655 ExAC_dupZ : 0.83529581439071 ExAC_synZ : -0.701316754576692 ExAC_misZ : 2.47905743723762 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5128 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001170464 Tx_version : 4 Tx_start : 96278224 Tx_end : 96400439 Exon_count : 16 Overlapped_tx_length : 122215 Overlapped_CDS_length : 1572 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 96278224 Intersect_end : 96400439 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TAOK3Gene_name : TAOK3; LOEUF_bin : 0 GnomAD_pLI : 9.9975e-01 ExAC_pLI : 9.9998e-01 HI : . TS : . DDD_HI_percent : 25.12 ACMG : . ExAC_cnvZ : 0.655757728675724 ExAC_delZ : 0.749878977974857 ExAC_dupZ : 0.448142714272827 ExAC_synZ : 0.240152401796084 ExAC_misZ : 3.75744194850724 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51347 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_001346487 Tx_version : 2 Tx_start : 118149800 Tx_end : 118372907 Exon_count : 21 Overlapped_tx_length : 223107 Overlapped_CDS_length : 2724 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118149800 Intersect_end : 118372907 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KSR2Gene_name : KSR2; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 9.9995e-01 HI : . TS : . DDD_HI_percent : 22.26 ACMG : . ExAC_cnvZ : -0.0151678978319047 ExAC_delZ : 0.984641780107441 ExAC_dupZ : -0.472993046928909 ExAC_synZ : 0.901708199414056 ExAC_misZ : 4.19967543102087 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22866 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22-q24.23 Location2 : 5'UTR-3'UTR Tx : NM_173598 Tx_version : 6 Tx_start : 117453011 Tx_end : 117968990 Exon_count : 20 Overlapped_tx_length : 515979 Overlapped_CDS_length : 2853 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 117453011 Intersect_end : 117968990 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HDAC7Gene_name : HDAC7; LOEUF_bin : 0 GnomAD_pLI : 9.9969e-01 ExAC_pLI : 9.9802e-01 HI : . TS : . DDD_HI_percent : 41.92 ACMG : . ExAC_cnvZ : 1.11836110430684 ExAC_delZ : 0.965167791581827 ExAC_dupZ : 0.891837173592649 ExAC_synZ : -0.413363674306038 ExAC_misZ : 1.89704945994123 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51564 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_011538481 Tx_version : 2 Tx_start : 47782721 Tx_end : 47820719 Exon_count : 26 Overlapped_tx_length : 37998 Overlapped_CDS_length : 3108 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47782721 Intersect_end : 47820719 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DNAJC14Gene_name : DNAJC14; LOEUF_bin : 0 GnomAD_pLI : 9.9999e-01 ExAC_pLI : 9.9971e-01 HI : . TS : . DDD_HI_percent : 41.33 ACMG : . ExAC_cnvZ : -0.230197254337962 ExAC_delZ : 0.22610651492526 ExAC_dupZ : -0.455047464625187 ExAC_synZ : -0.911798230654102 ExAC_misZ : 1.21433807191269 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 85406 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001394689 Tx_version : 1 Tx_start : 55820984 Tx_end : 55830775 Exon_count : 7 Overlapped_tx_length : 9791 Overlapped_CDS_length : 2109 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55820984 Intersect_end : 55830775 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BAZ2AGene_name : BAZ2A; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 36.66 ACMG : . ExAC_cnvZ : -0.614967128178231 ExAC_delZ : -2.57398893187808 ExAC_dupZ : 1.34165579635781 ExAC_synZ : -0.593726818625205 ExAC_misZ : 1.45673078795487 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11176 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_047428139 Tx_version : 1 Tx_start : 56597611 Tx_end : 56636875 Exon_count : 30 Overlapped_tx_length : 39264 Overlapped_CDS_length : 5889 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56597611 Intersect_end : 56636875 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RSRC2Gene_name : RSRC2; LOEUF_bin : 0 GnomAD_pLI : 9.9905e-01 ExAC_pLI : 9.9288e-01 HI : . TS : . DDD_HI_percent : 14.95 ACMG : . ExAC_cnvZ : 0.927194326411594 ExAC_delZ : 1.09003455428856 ExAC_dupZ : 0.571149223183936 ExAC_synZ : -0.87508219859418 ExAC_misZ : 2.01239780881739 GenCC_disease : complex neurodevelopmental disorder GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 65117 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_005253601 Tx_version : 3 Tx_start : 122503453 Tx_end : 122526936 Exon_count : 10 Overlapped_tx_length : 23483 Overlapped_CDS_length : 1308 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122503453 Intersect_end : 122526936 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZFC3H1Gene_name : ZFC3H1; LOEUF_bin : 0 GnomAD_pLI : 1.0000e+00 ExAC_pLI : 1.0000e+00 HI : . TS : . DDD_HI_percent : 30.66 ACMG : . ExAC_cnvZ : 1.15655884677236 ExAC_delZ : 1.01443655732462 ExAC_dupZ : 0.988035052402416 ExAC_synZ : -0.677745458216205 ExAC_misZ : 2.2110593525941 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 196441 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_144982 Tx_version : 5 Tx_start : 71609598 Tx_end : 71663848 Exon_count : 35 Overlapped_tx_length : 54250 Overlapped_CDS_length : 5970 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71609598 Intersect_end : 71663848 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PTGES3Gene_name : PTGES3; LOEUF_bin : 0 GnomAD_pLI : 9.8536e-01 ExAC_pLI : 8.7137e-01 HI : . TS : . DDD_HI_percent : 3.92 ACMG : . ExAC_cnvZ : 0.757999785185388 ExAC_delZ : 0.101081889654148 ExAC_dupZ : 0.905819345075406 ExAC_synZ : 0.269670525475207 ExAC_misZ : 1.48327275853199 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10728 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_017018716 Tx_version : 2 Tx_start : 56664806 Tx_end : 56688284 Exon_count : 6 Overlapped_tx_length : 23478 Overlapped_CDS_length : 498 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56664806 Intersect_end : 56688284 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NELL2Gene_name : NELL2; LOEUF_bin : 0 GnomAD_pLI : 9.9952e-01 ExAC_pLI : 9.9985e-01 HI : . TS : . DDD_HI_percent : 20.12 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.0840482979150444 ExAC_misZ : 0.108003135456399 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4753 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001145107 Tx_version : 2 Tx_start : 44508277 Tx_end : 44876875 Exon_count : 21 Overlapped_tx_length : 368598 Overlapped_CDS_length : 2601 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 44508277 Intersect_end : 44876875 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPP1CCGene_name : PPP1CC; LOEUF_bin : 1 GnomAD_pLI : 9.5777e-01 ExAC_pLI : 9.4491e-01 HI : . TS : . DDD_HI_percent : 2.82 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.120994407302951 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.197917965786697 ExAC_misZ : 3.84806912569796 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5501 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_011538504 Tx_version : 4 Tx_start : 110708375 Tx_end : 110742891 Exon_count : 9 Overlapped_tx_length : 34516 Overlapped_CDS_length : 1089 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110708375 Intersect_end : 110742891 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
EEA1Gene_name : EEA1; LOEUF_bin : 1 GnomAD_pLI : 9.2875e-01 ExAC_pLI : 6.9736e-01 HI : . TS : . DDD_HI_percent : 9.39 ACMG : . ExAC_cnvZ : -0.0573899198450931 ExAC_delZ : -0.00838324136337842 ExAC_dupZ : -0.146669308837534 ExAC_synZ : -0.82842352049135 ExAC_misZ : 0.0091852462795493 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8411 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : XM_011538814 Tx_version : 3 Tx_start : 92770636 Tx_end : 92929295 Exon_count : 30 Overlapped_tx_length : 158659 Overlapped_CDS_length : 4362 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92770636 Intersect_end : 92929295 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM132CGene_name : TMEM132C; LOEUF_bin : 1 GnomAD_pLI : 6.3879e-01 ExAC_pLI : 6.6707e-01 HI : . TS : . DDD_HI_percent : 76.34 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -2.1847112941702 ExAC_misZ : -0.47186644948566 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 92293 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32-q24.33 Location2 : 5'UTR-3'UTR Tx : NM_001136103 Tx_version : 3 Tx_start : 128267169 Tx_end : 128707911 Exon_count : 9 Overlapped_tx_length : 440742 Overlapped_CDS_length : 3327 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128267169 Intersect_end : 128707911 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPTC7Gene_name : PPTC7; LOEUF_bin : 1 GnomAD_pLI : 9.3813e-01 ExAC_pLI : 3.5485e-01 HI : . TS : . DDD_HI_percent : 18.37 ACMG : . ExAC_cnvZ : 0.286452939386722 ExAC_delZ : 0.136284758177561 ExAC_dupZ : 0.253263538511684 ExAC_synZ : 0.835466410465057 ExAC_misZ : 3.4101408705002 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 160760 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_139283 Tx_version : 2 Tx_start : 110533244 Tx_end : 110583318 Exon_count : 6 Overlapped_tx_length : 50074 Overlapped_CDS_length : 915 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110533244 Intersect_end : 110583318 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC41A2Gene_name : SLC41A2; LOEUF_bin : 1 GnomAD_pLI : 9.6597e-01 ExAC_pLI : 9.1305e-01 HI : . TS : . DDD_HI_percent : 43.09 ACMG : . ExAC_cnvZ : 0.469606922536733 ExAC_delZ : 0.885652301263039 ExAC_dupZ : 0.0990992004669583 ExAC_synZ : 0.858141229884159 ExAC_misZ : 1.79489011199448 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84102 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001352169 Tx_version : 2 Tx_start : 104801800 Tx_end : 104958746 Exon_count : 12 Overlapped_tx_length : 156946 Overlapped_CDS_length : 1722 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104801800 Intersect_end : 104958746 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
POU6F1Gene_name : POU6F1; LOEUF_bin : 1 GnomAD_pLI : 8.8028e-01 ExAC_pLI : 9.0756e-01 HI : . TS : . DDD_HI_percent : 17.88 ACMG : . ExAC_cnvZ : 1.49451982593662 ExAC_delZ : 1.06096934935211 ExAC_dupZ : 1.30990321396553 ExAC_synZ : -0.383919686436974 ExAC_misZ : 1.87063803651315 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5463 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001330422 Tx_version : 2 Tx_start : 51186935 Tx_end : 51218062 Exon_count : 11 Overlapped_tx_length : 31127 Overlapped_CDS_length : 1836 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51186935 Intersect_end : 51218062 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CSRNP2Gene_name : CSRNP2; LOEUF_bin : 1 GnomAD_pLI : 9.6015e-01 ExAC_pLI : 9.5052e-01 HI : . TS : . DDD_HI_percent : 32.27 ACMG : . ExAC_cnvZ : 1.06437061983039 ExAC_delZ : 0.972874026868208 ExAC_dupZ : 0.827443351643024 ExAC_synZ : 0.612957350239435 ExAC_misZ : 2.38905827343874 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 81566 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_030809 Tx_version : 3 Tx_start : 51061204 Tx_end : 51083596 Exon_count : 5 Overlapped_tx_length : 22392 Overlapped_CDS_length : 1632 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51061204 Intersect_end : 51083596 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DTX3Gene_name : DTX3; LOEUF_bin : 1 GnomAD_pLI : 8.8755e-01 ExAC_pLI : 9.2114e-01 HI : . TS : . DDD_HI_percent : 51.22 ACMG : . ExAC_cnvZ : -0.170476033748511 ExAC_delZ : 0.198614561689181 ExAC_dupZ : -0.378428137531324 ExAC_synZ : 0.63975761997022 ExAC_misZ : 2.7992754346582 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 196403 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001286245 Tx_version : 2 Tx_start : 57604823 Tx_end : 57609802 Exon_count : 6 Overlapped_tx_length : 4979 Overlapped_CDS_length : 1053 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57604823 Intersect_end : 57609802 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NCKAP5LGene_name : NCKAP5L; LOEUF_bin : 1 GnomAD_pLI : 6.3200e-01 ExAC_pLI : 5.6562e-01 HI : . TS : . DDD_HI_percent : 65.38 ACMG : . ExAC_cnvZ : 0.267341431495437 ExAC_delZ : 0.644565833116497 ExAC_dupZ : 0.032716850444266 ExAC_synZ : -1.65412853196955 ExAC_misZ : -1.10055296147918 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57701 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001037806 Tx_version : 4 Tx_start : 49791151 Tx_end : 49828413 Exon_count : 13 Overlapped_tx_length : 37262 Overlapped_CDS_length : 4005 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49791151 Intersect_end : 49828413 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPM1HGene_name : PPM1H; LOEUF_bin : 1 GnomAD_pLI : 7.9216e-01 ExAC_pLI : 8.5502e-01 HI : . TS : . DDD_HI_percent : 26.05 ACMG : . ExAC_cnvZ : 0.0110956614380988 ExAC_delZ : 0.384115063386556 ExAC_dupZ : -0.224259591687212 ExAC_synZ : 0.323513521941724 ExAC_misZ : 1.46178657833125 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57460 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1-q14.2 Location2 : 5'UTR-3'UTR Tx : NM_020700 Tx_version : 2 Tx_start : 62643993 Tx_end : 62935150 Exon_count : 10 Overlapped_tx_length : 291157 Overlapped_CDS_length : 1545 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62643993 Intersect_end : 62935150 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : XM_047428595 Tx_version : 1 Tx_start : 64759483 Tx_end : 64881033 Exon_count : 15 Overlapped_tx_length : 121550 Overlapped_CDS_length : 2835 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64759483 Intersect_end : 64881033 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MLXIPGene_name : MLXIP; LOEUF_bin : 1 GnomAD_pLI : 9.8932e-01 ExAC_pLI : 9.7575e-01 HI : . TS : . DDD_HI_percent : 62.59 ACMG : . ExAC_cnvZ : 0.809856663432998 ExAC_delZ : 0.109158475451922 ExAC_dupZ : 1.01581930237475 ExAC_synZ : -1.25561335120879 ExAC_misZ : 1.90709081124185 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22877 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_006719290 Tx_version : 5 Tx_start : 122078755 Tx_end : 122147344 Exon_count : 18 Overlapped_tx_length : 68589 Overlapped_CDS_length : 2883 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122078755 Intersect_end : 122147344 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SART3Gene_name : SART3; LOEUF_bin : 1 GnomAD_pLI : 9.9661e-01 ExAC_pLI : 9.9171e-01 HI : . TS : . DDD_HI_percent : 40.91 ACMG : . ExAC_cnvZ : 1.42854532494576 ExAC_delZ : 1.30378487262467 ExAC_dupZ : 1.11052422264887 ExAC_synZ : 0.813609013403321 ExAC_misZ : 0.653187576731492 GenCC_disease : disseminated superficial actinic porokeratosis GenCC_moi : AD GenCC_classification : Moderate GenCC_pmid : . NCBI_gene_ID : 9733 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001410983 Tx_version : 1 Tx_start : 108522213 Tx_end : 108561173 Exon_count : 19 Overlapped_tx_length : 38960 Overlapped_CDS_length : 2946 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108522213 Intersect_end : 108561173 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IKZF4Gene_name : IKZF4; LOEUF_bin : 1 GnomAD_pLI : 8.9759e-01 ExAC_pLI : 9.5361e-01 HI : . TS : . DDD_HI_percent : 19.79 ACMG : . ExAC_cnvZ : 0.808072607467531 ExAC_delZ : 0.322568962657598 ExAC_dupZ : 0.745057540069426 ExAC_synZ : -0.480452838991825 ExAC_misZ : 2.54345471051253 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64375 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001351089 Tx_version : 2 Tx_start : 56007503 Tx_end : 56038435 Exon_count : 12 Overlapped_tx_length : 30932 Overlapped_CDS_length : 1758 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56007503 Intersect_end : 56038435 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC38A4Gene_name : SLC38A4; LOEUF_bin : 1 GnomAD_pLI : 5.6028e-01 ExAC_pLI : 9.4298e-01 HI : . TS : . DDD_HI_percent : 36.19 ACMG : . ExAC_cnvZ : 0.923710439332439 ExAC_delZ : 0.550721037055005 ExAC_dupZ : 0.894571672601645 ExAC_synZ : 0.185371061386652 ExAC_misZ : 0.917750725055896 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55089 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_005268997 Tx_version : 3 Tx_start : 46764760 Tx_end : 46832431 Exon_count : 16 Overlapped_tx_length : 67671 Overlapped_CDS_length : 1644 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46764760 Intersect_end : 46832431 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RNF41Gene_name : RNF41; LOEUF_bin : 1 GnomAD_pLI : 9.6847e-01 ExAC_pLI : 8.5608e-01 HI : . TS : . DDD_HI_percent : 13.61 ACMG : . ExAC_cnvZ : 1.05136591700837 ExAC_delZ : 0.404187585899245 ExAC_dupZ : 1.1654514667415 ExAC_synZ : 0.434645087193545 ExAC_misZ : 3.97521207486854 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10193 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_005785 Tx_version : 4 Tx_start : 56202178 Tx_end : 56221922 Exon_count : 7 Overlapped_tx_length : 19744 Overlapped_CDS_length : 954 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56202178 Intersect_end : 56221922 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SENP1Gene_name : SENP1; LOEUF_bin : 1 GnomAD_pLI : 9.9358e-01 ExAC_pLI : 9.9390e-01 HI : . TS : . DDD_HI_percent : 16.49 ACMG : . ExAC_cnvZ : -0.601359313698928 ExAC_delZ : 0.424342261440135 ExAC_dupZ : -1.01714303237877 ExAC_synZ : -0.922121781677002 ExAC_misZ : 1.51547748034392 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 29843 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_017019229 Tx_version : 3 Tx_start : 48042896 Tx_end : 48105992 Exon_count : 19 Overlapped_tx_length : 63096 Overlapped_CDS_length : 2124 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48042896 Intersect_end : 48105992 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TUBA1BGene_name : TUBA1B; LOEUF_bin : 1 GnomAD_pLI : 9.6767e-01 ExAC_pLI : 8.2842e-01 HI : . TS : . DDD_HI_percent : 15.63 ACMG : . ExAC_cnvZ : 0.686978157954894 ExAC_delZ : 0.848718989795685 ExAC_dupZ : 0.424938215313686 ExAC_synZ : 2.41041005265164 ExAC_misZ : 5.96989422432644 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10376 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_006082 Tx_version : 3 Tx_start : 49127781 Tx_end : 49131395 Exon_count : 4 Overlapped_tx_length : 3614 Overlapped_CDS_length : 1356 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49127781 Intersect_end : 49131395 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MON2Gene_name : MON2; LOEUF_bin : 1 GnomAD_pLI : 5.9388e-01 ExAC_pLI : 9.8271e-01 HI : . TS : . DDD_HI_percent : 19.11 ACMG : . ExAC_cnvZ : 1.64898219508151 ExAC_delZ : 1.5287573628094 ExAC_dupZ : 1.29790165074874 ExAC_synZ : 0.685475775447476 ExAC_misZ : 2.0663430437427 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23041 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : XM_017019041 Tx_version : 2 Tx_start : 62466825 Tx_end : 62600476 Exon_count : 36 Overlapped_tx_length : 133651 Overlapped_CDS_length : 5157 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62466825 Intersect_end : 62600476 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FMNL3Gene_name : FMNL3; LOEUF_bin : 1 GnomAD_pLI : 4.6549e-01 ExAC_pLI : 3.5650e-01 HI : . TS : . DDD_HI_percent : 26.71 ACMG : . ExAC_cnvZ : 1.19090127001751 ExAC_delZ : 1.78949033164975 ExAC_dupZ : 0.722049500533279 ExAC_synZ : -0.554792191460431 ExAC_misZ : 2.52390462121199 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 91010 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_011538968 Tx_version : 3 Tx_start : 49646641 Tx_end : 49706021 Exon_count : 26 Overlapped_tx_length : 59380 Overlapped_CDS_length : 3144 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49646641 Intersect_end : 49706021 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC2A13Gene_name : SLC2A13; LOEUF_bin : 1 GnomAD_pLI : 8.3307e-01 ExAC_pLI : 9.5610e-01 HI : . TS : . DDD_HI_percent : 41.95 ACMG : . ExAC_cnvZ : -0.496359651192041 ExAC_delZ : 0.299812245071838 ExAC_dupZ : -0.844103956265968 ExAC_synZ : 0.933118100871499 ExAC_misZ : 1.5954214581897 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 114134 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_052885 Tx_version : 4 Tx_start : 39755024 Tx_end : 40106081 Exon_count : 10 Overlapped_tx_length : 351057 Overlapped_CDS_length : 1947 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39755024 Intersect_end : 40106081 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DDX23Gene_name : DDX23; LOEUF_bin : 1 GnomAD_pLI : 5.4199e-01 ExAC_pLI : 9.9956e-01 HI : . TS : . DDD_HI_percent : 15.87 ACMG : . ExAC_cnvZ : 0.869281739380798 ExAC_delZ : -0.0323332492935515 ExAC_dupZ : 1.40047097824411 ExAC_synZ : 0.0221523669022353 ExAC_misZ : 5.53126927248149 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9416 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_004818 Tx_version : 3 Tx_start : 48829755 Tx_end : 48852163 Exon_count : 17 Overlapped_tx_length : 22408 Overlapped_CDS_length : 2463 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48829755 Intersect_end : 48852163 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ITGA5Gene_name : ITGA5; LOEUF_bin : 1 GnomAD_pLI : 4.2455e-01 ExAC_pLI : 9.9980e-01 HI : . TS : . DDD_HI_percent : 19.47 ACMG : . ExAC_cnvZ : 0.494960834219013 ExAC_delZ : -0.306495622258561 ExAC_dupZ : 0.959523974522205 ExAC_synZ : 1.09046122271965 ExAC_misZ : 1.69621417407861 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3678 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_002205 Tx_version : 5 Tx_start : 54395260 Tx_end : 54419266 Exon_count : 30 Overlapped_tx_length : 24006 Overlapped_CDS_length : 3150 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54395260 Intersect_end : 54419266 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CLIP1Gene_name : CLIP1; LOEUF_bin : 1 GnomAD_pLI : 6.8088e-01 ExAC_pLI : 9.6850e-01 HI : . TS : . DDD_HI_percent : 9.83 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.820040792488027 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -1.18212227206571 ExAC_misZ : 1.53314275370667 GenCC_disease : autosomal recessive non-syndromic intellectual disability; intellectual disability GenCC_moi : AR GenCC_classification : Limited; Supportive GenCC_pmid : 24569606[PMID] NCBI_gene_ID : 6249 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001389291 Tx_version : 1 Tx_start : 122271468 Tx_end : 122422669 Exon_count : 25 Overlapped_tx_length : 151201 Overlapped_CDS_length : 6447 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122271468 Intersect_end : 122422669 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
E2F7Gene_name : E2F7; LOEUF_bin : 1 GnomAD_pLI : 9.9317e-01 ExAC_pLI : 4.2313e-01 HI : . TS : . DDD_HI_percent : 48.11 ACMG : . ExAC_cnvZ : 0.641809952449293 ExAC_delZ : 0.507490527903258 ExAC_dupZ : 0.54375514262375 ExAC_synZ : -0.243833973098525 ExAC_misZ : 1.27337901070626 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144455 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_203394 Tx_version : 3 Tx_start : 77021250 Tx_end : 77065569 Exon_count : 13 Overlapped_tx_length : 44319 Overlapped_CDS_length : 2736 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 77021250 Intersect_end : 77065569 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NEDD1Gene_name : NEDD1; LOEUF_bin : 1 GnomAD_pLI : 4.2159e-01 ExAC_pLI : 2.2156e-01 HI : . TS : . DDD_HI_percent : 12.42 ACMG : . ExAC_cnvZ : 1.48358254031232 ExAC_delZ : 1.05911028283919 ExAC_dupZ : 1.23623659227645 ExAC_synZ : -0.575069555301656 ExAC_misZ : -1.01311197437051 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121441 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : XM_005268644 Tx_version : 3 Tx_start : 96907256 Tx_end : 96953780 Exon_count : 16 Overlapped_tx_length : 46524 Overlapped_CDS_length : 2004 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 96907256 Intersect_end : 96953780 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PAN2Gene_name : PAN2; LOEUF_bin : 1 GnomAD_pLI : 9.3596e-01 ExAC_pLI : 9.4667e-01 HI : . TS : . DDD_HI_percent : 29.11 ACMG : . ExAC_cnvZ : 1.43271555126727 ExAC_delZ : 1.28961103868813 ExAC_dupZ : 1.12767665310183 ExAC_synZ : 0.388895797524822 ExAC_misZ : 3.32878058373677 GenCC_disease : multiple congenital anomalies/dysmorphic syndrome-intellectual disability GenCC_moi : AR GenCC_classification : Definitive GenCC_pmid : 29620724; 35304602 NCBI_gene_ID : 147945 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001394699 Tx_version : 1 Tx_start : 56316935 Tx_end : 56334000 Exon_count : 26 Overlapped_tx_length : 17065 Overlapped_CDS_length : 3609 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56316935 Intersect_end : 56334000 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
WSCD2Gene_name : WSCD2; LOEUF_bin : 1 GnomAD_pLI : 7.8262e-01 ExAC_pLI : 4.9403e-01 HI : . TS : . DDD_HI_percent : 36.42 ACMG : . ExAC_cnvZ : 1.10722372393253 ExAC_delZ : 0.658148327089086 ExAC_dupZ : 0.963846803651286 ExAC_synZ : 0.13884546721954 ExAC_misZ : 1.68242869183592 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9671 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_014653 Tx_version : 4 Tx_start : 108129287 Tx_end : 108250537 Exon_count : 9 Overlapped_tx_length : 121250 Overlapped_CDS_length : 1698 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108129287 Intersect_end : 108250537 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HSP90B1Gene_name : HSP90B1; LOEUF_bin : 1 GnomAD_pLI : 9.9720e-01 ExAC_pLI : 9.8784e-01 HI : . TS : . DDD_HI_percent : 18.23 ACMG : . ExAC_cnvZ : 0.323112466653815 ExAC_delZ : 0.913247141487 ExAC_dupZ : -0.061633523828744 ExAC_synZ : 0.183026630543806 ExAC_misZ : 1.76078069602436 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7184 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_003299 Tx_version : 3 Tx_start : 103930409 Tx_end : 103947926 Exon_count : 18 Overlapped_tx_length : 17517 Overlapped_CDS_length : 2412 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103930409 Intersect_end : 103947926 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
XPOTGene_name : XPOT; LOEUF_bin : 1 GnomAD_pLI : 9.9711e-01 ExAC_pLI : 9.9793e-01 HI : . TS : . DDD_HI_percent : 9.12 ACMG : . ExAC_cnvZ : 1.22449215913512 ExAC_delZ : 1.38842932128674 ExAC_dupZ : 0.827219714614072 ExAC_synZ : 0.197048293537978 ExAC_misZ : 1.7187242748224 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11260 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : 5'UTR-3'UTR Tx : NM_007235 Tx_version : 6 Tx_start : 64404391 Tx_end : 64451125 Exon_count : 25 Overlapped_tx_length : 46734 Overlapped_CDS_length : 2889 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64404391 Intersect_end : 64451125 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KCNMB4Gene_name : KCNMB4; LOEUF_bin : 1 GnomAD_pLI : 9.3853e-01 ExAC_pLI : 8.2940e-01 HI : . TS : . DDD_HI_percent : 30.79 ACMG : . ExAC_cnvZ : 0.380648581597957 ExAC_delZ : 0.785397972174361 ExAC_dupZ : 0.0468026414633669 ExAC_synZ : 1.62700534816734 ExAC_misZ : 2.89838096608353 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 27345 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_014505 Tx_version : 6 Tx_start : 70366289 Tx_end : 70434292 Exon_count : 3 Overlapped_tx_length : 68003 Overlapped_CDS_length : 633 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 70366289 Intersect_end : 70434292 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PTPRBGene_name : PTPRB; LOEUF_bin : 1 GnomAD_pLI : 5.0207e-01 ExAC_pLI : 9.4350e-01 HI : . TS : . DDD_HI_percent : 39.33 ACMG : . ExAC_cnvZ : 1.41594489844355 ExAC_delZ : 1.24533171710121 ExAC_dupZ : 1.14555404734316 ExAC_synZ : -0.430123889066669 ExAC_misZ : 0.489616570808299 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5787 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : XM_006719528 Tx_version : 2 Tx_start : 70524288 Tx_end : 70637429 Exon_count : 33 Overlapped_tx_length : 113141 Overlapped_CDS_length : 6693 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 70524288 Intersect_end : 70637429 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KANSL2Gene_name : KANSL2; LOEUF_bin : 1 GnomAD_pLI : 8.7965e-01 ExAC_pLI : 4.0403e-01 HI : . TS : . DDD_HI_percent : 20 ACMG : . ExAC_cnvZ : 0.860453340069621 ExAC_delZ : 0.37762131664899 ExAC_dupZ : 0.776357659284764 ExAC_synZ : -0.261073668444728 ExAC_misZ : 1.16092653910985 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 54934 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_017822 Tx_version : 4 Tx_start : 48653210 Tx_end : 48682238 Exon_count : 10 Overlapped_tx_length : 29028 Overlapped_CDS_length : 1479 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48653210 Intersect_end : 48682238 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SPATS2Gene_name : SPATS2; LOEUF_bin : 1 GnomAD_pLI : 9.7239e-01 ExAC_pLI : 9.8965e-01 HI : . TS : . DDD_HI_percent : 12.29 ACMG : . ExAC_cnvZ : 1.16268005595339 ExAC_delZ : 1.04309070486297 ExAC_dupZ : 0.911341260295752 ExAC_synZ : 0.69008791001802 ExAC_misZ : 0.282586031427667 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 65244 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_047429409 Tx_version : 1 Tx_start : 49366851 Tx_end : 49527425 Exon_count : 13 Overlapped_tx_length : 160574 Overlapped_CDS_length : 1638 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49366851 Intersect_end : 49527425 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CABP1Gene_name : CABP1; LOEUF_bin : 1 GnomAD_pLI : 8.8789e-01 ExAC_pLI : 9.9440e-01 HI : . TS : . DDD_HI_percent : 30.19 ACMG : . ExAC_cnvZ : 0.0148145555292906 ExAC_delZ : -0.399789312949479 ExAC_dupZ : 0.226473958771823 ExAC_synZ : 0.634801136001966 ExAC_misZ : 2.46105337511305 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9478 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_017020235 Tx_version : 2 Tx_start : 120640625 Tx_end : 120680866 Exon_count : 6 Overlapped_tx_length : 40241 Overlapped_CDS_length : 1218 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120640625 Intersect_end : 120680866 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC38A1Gene_name : SLC38A1; LOEUF_bin : 1 GnomAD_pLI : 9.3067e-01 ExAC_pLI : 9.7543e-01 HI : . TS : . DDD_HI_percent : 41.46 ACMG : . ExAC_cnvZ : 1.13221431163947 ExAC_delZ : 0.481037768490264 ExAC_dupZ : 1.21853784708088 ExAC_synZ : 0.0734841472434173 ExAC_misZ : 2.27829001960581 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 81539 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001278390 Tx_version : 1 Tx_start : 46195724 Tx_end : 46267987 Exon_count : 17 Overlapped_tx_length : 72263 Overlapped_CDS_length : 1512 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46195724 Intersect_end : 46267987 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RIMBP2Gene_name : RIMBP2; LOEUF_bin : 1 GnomAD_pLI : 6.7813e-01 ExAC_pLI : 2.9258e-01 HI : . TS : . DDD_HI_percent : 72.43 ACMG : . ExAC_cnvZ : -0.4090288868792 ExAC_delZ : 0.349561229031008 ExAC_dupZ : -0.727894178055352 ExAC_synZ : 0.753694297564007 ExAC_misZ : 0.934077345277406 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23504 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : XM_011538103 Tx_version : 3 Tx_start : 130396132 Tx_end : 130635620 Exon_count : 23 Overlapped_tx_length : 239488 Overlapped_CDS_length : 4290 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130396132 Intersect_end : 130635620 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LARP4Gene_name : LARP4; LOEUF_bin : 1 GnomAD_pLI : 8.6884e-01 ExAC_pLI : 9.9463e-01 HI : . TS : . DDD_HI_percent : 36.76 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.0475285908240321 ExAC_misZ : 0.569250290177566 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 113251 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_047428202 Tx_version : 1 Tx_start : 50401148 Tx_end : 50480004 Exon_count : 17 Overlapped_tx_length : 78856 Overlapped_CDS_length : 2217 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50401148 Intersect_end : 50480004 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NR2C1Gene_name : NR2C1; LOEUF_bin : 1 GnomAD_pLI : 6.8284e-01 ExAC_pLI : 9.8233e-01 HI : . TS : . DDD_HI_percent : 21.46 ACMG : . ExAC_cnvZ : 1.12225330740872 ExAC_delZ : 0.75281743602543 ExAC_dupZ : 1.09248570115775 ExAC_synZ : 0.493106219687118 ExAC_misZ : 0.240723355544259 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7181 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_003297 Tx_version : 4 Tx_start : 95020228 Tx_end : 95073618 Exon_count : 14 Overlapped_tx_length : 53390 Overlapped_CDS_length : 1812 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95020228 Intersect_end : 95073618 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ASIC1Gene_name : ASIC1; LOEUF_bin : 1 GnomAD_pLI : 9.3017e-01 ExAC_pLI : 9.8833e-01 HI : . TS : . DDD_HI_percent : 22.59 ACMG : . ExAC_cnvZ : 1.00007407053329 ExAC_delZ : 1.14275617249776 ExAC_dupZ : 0.6988137823525 ExAC_synZ : 1.13457286665136 ExAC_misZ : 3.43530901087114 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 41 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_020039 Tx_version : 4 Tx_start : 50057595 Tx_end : 50083611 Exon_count : 12 Overlapped_tx_length : 26016 Overlapped_CDS_length : 1725 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50057595 Intersect_end : 50083611 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PLXNC1Gene_name : PLXNC1; LOEUF_bin : 1 GnomAD_pLI : 9.9811e-01 ExAC_pLI : 9.9971e-01 HI : . TS : . DDD_HI_percent : 9.98 ACMG : . ExAC_cnvZ : 1.39327533437269 ExAC_delZ : 1.7996243470657 ExAC_dupZ : 0.929820920629263 ExAC_synZ : 1.88039922100231 ExAC_misZ : 5.06012228154622 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10154 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_005761 Tx_version : 3 Tx_start : 94148576 Tx_end : 94307675 Exon_count : 31 Overlapped_tx_length : 159099 Overlapped_CDS_length : 4707 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94148576 Intersect_end : 94307675 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DGKAGene_name : DGKA; LOEUF_bin : 1 GnomAD_pLI : 4.6072e-01 ExAC_pLI : 9.9925e-01 HI : . TS : . DDD_HI_percent : 53.54 ACMG : . ExAC_cnvZ : 0.250122139630421 ExAC_delZ : 0.146010693595046 ExAC_dupZ : 0.221620549572833 ExAC_synZ : 1.64259257698771 ExAC_misZ : 2.86212944920599 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1606 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : XM_017018900 Tx_version : 1 Tx_start : 55935833 Tx_end : 55954023 Exon_count : 23 Overlapped_tx_length : 18190 Overlapped_CDS_length : 2676 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55935833 Intersect_end : 55954023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
VPS29Gene_name : VPS29; LOEUF_bin : 2 GnomAD_pLI : 7.4696e-01 ExAC_pLI : 9.3474e-01 HI : . TS : . DDD_HI_percent : 8.49 ACMG : . ExAC_cnvZ : -0.331292359998551 ExAC_delZ : -0.303227225152942 ExAC_dupZ : -0.319921618247538 ExAC_synZ : 0.38506430417839 ExAC_misZ : 1.51105166429376 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51699 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001282150 Tx_version : 2 Tx_start : 110491082 Tx_end : 110502111 Exon_count : 6 Overlapped_tx_length : 11029 Overlapped_CDS_length : 645 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110491082 Intersect_end : 110502111 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HVCN1Gene_name : HVCN1; LOEUF_bin : 2 GnomAD_pLI : 6.2735e-01 ExAC_pLI : 7.5049e-01 HI : . TS : . DDD_HI_percent : 62.05 ACMG : . ExAC_cnvZ : -0.070120615196434 ExAC_delZ : -0.0293157431970704 ExAC_dupZ : -0.122080430863517 ExAC_synZ : 0.612909945964831 ExAC_misZ : 1.29508764509089 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84329 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_017020026 Tx_version : 3 Tx_start : 110648685 Tx_end : 110702395 Exon_count : 9 Overlapped_tx_length : 53710 Overlapped_CDS_length : 963 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110648685 Intersect_end : 110702395 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RNF34Gene_name : RNF34; LOEUF_bin : 2 GnomAD_pLI : 6.1057e-01 ExAC_pLI : 1.9089e-01 HI : . TS : . DDD_HI_percent : 39.07 ACMG : . ExAC_cnvZ : 0.381303915679891 ExAC_delZ : -0.3988546669592 ExAC_dupZ : 0.833747856919624 ExAC_synZ : 0.593103051630742 ExAC_misZ : 1.61193720671172 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80196 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001394208 Tx_version : 1 Tx_start : 121400117 Tx_end : 121424348 Exon_count : 8 Overlapped_tx_length : 24231 Overlapped_CDS_length : 1122 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121400117 Intersect_end : 121424348 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SRSF9Gene_name : SRSF9; LOEUF_bin : 2 GnomAD_pLI : 6.3924e-01 ExAC_pLI : 8.1964e-01 HI : . TS : . DDD_HI_percent : 8.01 ACMG : . ExAC_cnvZ : 0.888611901625132 ExAC_delZ : 0.419162286435037 ExAC_dupZ : 0.788195573940982 ExAC_synZ : 0.299526485210479 ExAC_misZ : 3.26863645107309 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8683 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_003769 Tx_version : 3 Tx_start : 120461671 Tx_end : 120469748 Exon_count : 4 Overlapped_tx_length : 8077 Overlapped_CDS_length : 666 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120461671 Intersect_end : 120469748 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PHLDA1Gene_name : PHLDA1; LOEUF_bin : 2 GnomAD_pLI : 7.9833e-01 ExAC_pLI : 1.6687e-01 HI : . TS : . DDD_HI_percent : 48.91 ACMG : . ExAC_cnvZ : 0.182551580119918 ExAC_delZ : -0.173609976148084 ExAC_dupZ : 0.218550703634336 ExAC_synZ : 1.5537985528094 ExAC_misZ : 2.35225778494265 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 22822 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_007350 Tx_version : 3 Tx_start : 76025446 Tx_end : 76031776 Exon_count : 2 Overlapped_tx_length : 6330 Overlapped_CDS_length : 1206 Overlapped_CDS_percent : 97 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76025446 Intersect_end : 76031776 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
POC1B-GALNT4Gene_name : POC1B-GALNT4; LOEUF_bin : 2 GnomAD_pLI : 1.0708e-01 ExAC_pLI : 3.7596e-02 HI : . TS : . DDD_HI_percent : 56.73 ACMG : . ExAC_cnvZ : 0.186872850263921 ExAC_delZ : 0.111679122078135 ExAC_dupZ : 0.0685297101712373 ExAC_synZ : 0.202099167864402 ExAC_misZ : 0.304954723585114 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100528030 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_001199781 Tx_version : 2 Tx_start : 89519411 Tx_end : 89526047 Exon_count : 3 Overlapped_tx_length : 6636 Overlapped_CDS_length : 1728 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89519411 Intersect_end : 89526047 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
YAF2Gene_name : YAF2; LOEUF_bin : 2 GnomAD_pLI : 7.9482e-01 ExAC_pLI : 8.4251e-01 HI : . TS : . DDD_HI_percent : 22.26 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.212145549633695 ExAC_misZ : 1.60747405575457 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10138 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : XM_011537728 Tx_version : 4 Tx_start : 42157103 Tx_end : 42238248 Exon_count : 6 Overlapped_tx_length : 81145 Overlapped_CDS_length : 717 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42157103 Intersect_end : 42238248 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GALNT4Gene_name : GALNT4; LOEUF_bin : 2 GnomAD_pLI : 2.6691e-01 ExAC_pLI : 1.1293e-01 HI : . TS : . DDD_HI_percent : 64.48 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.168339131576329 ExAC_misZ : 0.101720410301536 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8693 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_003774 Tx_version : 5 Tx_start : 89519411 Tx_end : 89524796 Exon_count : 1 Overlapped_tx_length : 5385 Overlapped_CDS_length : 1737 Overlapped_CDS_percent : 87 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89519411 Intersect_end : 89524796 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GXYLT1Gene_name : GXYLT1; LOEUF_bin : 2 GnomAD_pLI : 1.2503e-01 ExAC_pLI : 9.8748e-01 HI : . TS : . DDD_HI_percent : 44.77 ACMG : . ExAC_cnvZ : 0.297188866592802 ExAC_delZ : 0.176173352319759 ExAC_dupZ : 0.237295246667658 ExAC_synZ : 0.573280942169069 ExAC_misZ : 0.823215966644879 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283464 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_173601 Tx_version : 2 Tx_start : 42081844 Tx_end : 42144874 Exon_count : 8 Overlapped_tx_length : 63030 Overlapped_CDS_length : 1323 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42081844 Intersect_end : 42144874 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TRHDEGene_name : TRHDE; LOEUF_bin : 2 GnomAD_pLI : 1.0218e-06 ExAC_pLI : 8.0997e-02 HI : . TS : . DDD_HI_percent : 6.63 ACMG : . ExAC_cnvZ : -0.951289680998097 ExAC_delZ : -2.03475606834556 ExAC_dupZ : -0.219100853316599 ExAC_synZ : 2.14032285680474 ExAC_misZ : 3.85315077702152 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 29953 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_013381 Tx_version : 3 Tx_start : 72272369 Tx_end : 72670758 Exon_count : 19 Overlapped_tx_length : 398389 Overlapped_CDS_length : 3210 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 72272369 Intersect_end : 72670758 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CDK2Gene_name : CDK2; LOEUF_bin : 2 GnomAD_pLI : 6.1054e-01 ExAC_pLI : 9.5830e-01 HI : . TS : . DDD_HI_percent : 0.67 ACMG : . ExAC_cnvZ : 0.693365261997518 ExAC_delZ : -0.16243438681751 ExAC_dupZ : 1.0975746116512 ExAC_synZ : 0.0369369403215127 ExAC_misZ : 2.89910545322279 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1017 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : XM_011537732 Tx_version : 2 Tx_start : 55966829 Tx_end : 55972789 Exon_count : 8 Overlapped_tx_length : 5960 Overlapped_CDS_length : 1041 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55966829 Intersect_end : 55972789 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NR4A1Gene_name : NR4A1; LOEUF_bin : 2 GnomAD_pLI : 3.7074e-01 ExAC_pLI : 9.5950e-01 HI : . TS : . DDD_HI_percent : 10.44 ACMG : . ExAC_cnvZ : 1.20302988463659 ExAC_delZ : 0.756397405229422 ExAC_dupZ : 1.08582109880216 ExAC_synZ : 0.0635678489487173 ExAC_misZ : 1.7186998515324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3164 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_047428755 Tx_version : 1 Tx_start : 52038755 Tx_end : 52059503 Exon_count : 8 Overlapped_tx_length : 20748 Overlapped_CDS_length : 2544 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52038755 Intersect_end : 52059503 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ERP29Gene_name : ERP29; LOEUF_bin : 2 GnomAD_pLI : 7.5108e-01 ExAC_pLI : 4.7065e-01 HI : . TS : . DDD_HI_percent : 37.13 ACMG : . ExAC_cnvZ : 0.758190394454006 ExAC_delZ : 0.298541535257637 ExAC_dupZ : 0.682412314450956 ExAC_synZ : 0.868756128762644 ExAC_misZ : 0.103579699770576 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10961 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_006817 Tx_version : 4 Tx_start : 112013425 Tx_end : 112023449 Exon_count : 3 Overlapped_tx_length : 10024 Overlapped_CDS_length : 786 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112013425 Intersect_end : 112023449 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
UTP20Gene_name : UTP20; LOEUF_bin : 2 GnomAD_pLI : 3.0008e-15 ExAC_pLI : 1.7023e-01 HI : . TS : . DDD_HI_percent : 51.5 ACMG : . ExAC_cnvZ : 0.763937017831234 ExAC_delZ : 0.293127162637698 ExAC_dupZ : 0.944566685368589 ExAC_synZ : -0.377161552831333 ExAC_misZ : -0.992099432920048 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 27340 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_014503 Tx_version : 3 Tx_start : 101280104 Tx_end : 101386618 Exon_count : 62 Overlapped_tx_length : 106514 Overlapped_CDS_length : 8358 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101280104 Intersect_end : 101386618 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SCARB1Gene_name : SCARB1; LOEUF_bin : 2 GnomAD_pLI : 6.6228e-02 ExAC_pLI : 7.7224e-02 HI : . TS : . DDD_HI_percent : 37.77 ACMG : . ExAC_cnvZ : -0.745774045396566 ExAC_delZ : -0.332821062170965 ExAC_dupZ : -0.877601927858474 ExAC_synZ : 0.406125166237472 ExAC_misZ : 1.81669232109387 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 949 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001367981 Tx_version : 1 Tx_start : 124776855 Tx_end : 124863864 Exon_count : 12 Overlapped_tx_length : 87009 Overlapped_CDS_length : 1659 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124776855 Intersect_end : 124863864 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_6 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
UNC119BGene_name : UNC119B; LOEUF_bin : 2 GnomAD_pLI : 7.8353e-01 ExAC_pLI : 6.7733e-01 HI : . TS : . DDD_HI_percent : 41.97 ACMG : . ExAC_cnvZ : 0.241943961367973 ExAC_delZ : -0.143687383684595 ExAC_dupZ : 0.411286791937588 ExAC_synZ : 0.123091284145145 ExAC_misZ : 1.37951880783601 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84747 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001080533 Tx_version : 3 Tx_start : 120710457 Tx_end : 120723640 Exon_count : 5 Overlapped_tx_length : 13183 Overlapped_CDS_length : 756 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120710457 Intersect_end : 120723640 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DDNGene_name : DDN; LOEUF_bin : 2 GnomAD_pLI : 3.5900e-01 ExAC_pLI : 9.8668e-01 HI : . TS : . DDD_HI_percent : 56.38 ACMG : . ExAC_cnvZ : 0.60935875216948 ExAC_delZ : 0.238450903953147 ExAC_dupZ : 0.591017518076066 ExAC_synZ : 2.36659014535539 ExAC_misZ : 3.62737735166411 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23109 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_015086 Tx_version : 2 Tx_start : 48995148 Tx_end : 48999375 Exon_count : 2 Overlapped_tx_length : 4227 Overlapped_CDS_length : 2136 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48995148 Intersect_end : 48999375 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CAMKK2Gene_name : CAMKK2; LOEUF_bin : 2 GnomAD_pLI : 9.1625e-02 ExAC_pLI : 5.0348e-01 HI : . TS : . DDD_HI_percent : 38.95 ACMG : . ExAC_cnvZ : -0.91853670464793 ExAC_delZ : -0.548425343207965 ExAC_dupZ : -1.05075413038438 ExAC_synZ : -0.0238005368537497 ExAC_misZ : 1.71432321916522 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10645 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_006549 Tx_version : 4 Tx_start : 121237691 Tx_end : 121297819 Exon_count : 17 Overlapped_tx_length : 60128 Overlapped_CDS_length : 1767 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121237691 Intersect_end : 121297819 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DENRGene_name : DENR; LOEUF_bin : 2 GnomAD_pLI : 8.7514e-01 ExAC_pLI : 8.4625e-01 HI : . TS : . DDD_HI_percent : 11.92 ACMG : . ExAC_cnvZ : 0.302535447496968 ExAC_delZ : 0.433358415734932 ExAC_dupZ : 0.0819405059564467 ExAC_synZ : -0.338812481999298 ExAC_misZ : 1.03025851049122 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8562 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_003677 Tx_version : 5 Tx_start : 122752823 Tx_end : 122771064 Exon_count : 8 Overlapped_tx_length : 18241 Overlapped_CDS_length : 597 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122752823 Intersect_end : 122771064 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RPLP0Gene_name : RPLP0; LOEUF_bin : 2 GnomAD_pLI : 7.6762e-01 ExAC_pLI : 9.7869e-01 HI : . TS : . DDD_HI_percent : 8.56 ACMG : . ExAC_cnvZ : 0.238639994234404 ExAC_delZ : 0.345955832682818 ExAC_dupZ : 0.0503639116415806 ExAC_synZ : 0.488203676451251 ExAC_misZ : 2.01109591259794 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6175 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_001002 Tx_version : 4 Tx_start : 120196698 Tx_end : 120201111 Exon_count : 8 Overlapped_tx_length : 4413 Overlapped_CDS_length : 954 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120196698 Intersect_end : 120201111 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RPH3AGene_name : RPH3A; LOEUF_bin : 2 GnomAD_pLI : 1.6609e-03 ExAC_pLI : 7.3860e-01 HI : 1 TS : 0 DDD_HI_percent : 42.44 ACMG : . ExAC_cnvZ : -1.47216318967414 ExAC_delZ : -0.31398223102342 ExAC_dupZ : -1.93695663684167 ExAC_synZ : -0.0139732529163612 ExAC_misZ : 1.01913966806544 GenCC_disease : congenital myasthenic syndrome GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 22895 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001347952 Tx_version : 2 Tx_start : 112575235 Tx_end : 112898881 Exon_count : 22 Overlapped_tx_length : 323646 Overlapped_CDS_length : 2085 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112575235 Intersect_end : 112898881 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ANO4Gene_name : ANO4; LOEUF_bin : 2 GnomAD_pLI : 3.2204e-04 ExAC_pLI : 8.4404e-01 HI : . TS : . DDD_HI_percent : 11.58 ACMG : . ExAC_cnvZ : 1.14593435920816 ExAC_delZ : 1.05530622528142 ExAC_dupZ : 0.955196592711718 ExAC_synZ : 1.51450831955003 ExAC_misZ : 2.91533765471971 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121601 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : XM_011537911 Tx_version : 3 Tx_start : 100717260 Tx_end : 101128641 Exon_count : 30 Overlapped_tx_length : 411381 Overlapped_CDS_length : 3459 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100717260 Intersect_end : 101128641 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SSH1Gene_name : SSH1; LOEUF_bin : 2 GnomAD_pLI : 3.3003e-04 ExAC_pLI : 9.8716e-01 HI : . TS : . DDD_HI_percent : 68.19 ACMG : . ExAC_cnvZ : 0.103753850727193 ExAC_delZ : -0.879195668175821 ExAC_dupZ : 0.784997130503175 ExAC_synZ : -0.182725633129073 ExAC_misZ : 0.828742762336063 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 54434 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_011538497 Tx_version : 2 Tx_start : 108778190 Tx_end : 108827551 Exon_count : 14 Overlapped_tx_length : 49361 Overlapped_CDS_length : 3183 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108778190 Intersect_end : 108827551 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BICD1Gene_name : BICD1; LOEUF_bin : 2 GnomAD_pLI : 1.5724e-05 ExAC_pLI : 1.4479e-01 HI : . TS : . DDD_HI_percent : 57.71 ACMG : . ExAC_cnvZ : 0.420415784711212 ExAC_delZ : 0.566935108197909 ExAC_dupZ : 0.176000860216905 ExAC_synZ : 0.495535483521516 ExAC_misZ : 2.05731973591457 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 636 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_001413156 Tx_version : 1 Tx_start : 32106846 Tx_end : 32348403 Exon_count : 9 Overlapped_tx_length : 241557 Overlapped_CDS_length : 2982 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 32106846 Intersect_end : 32348403 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TPCN1Gene_name : TPCN1; LOEUF_bin : 2 GnomAD_pLI : 3.9780e-03 ExAC_pLI : 3.8589e-03 HI : . TS : . DDD_HI_percent : 43.77 ACMG : . ExAC_cnvZ : -2.27757806892318 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.14895878397822 ExAC_synZ : -0.560582715165394 ExAC_misZ : 2.51827383122478 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 53373 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001143819 Tx_version : 3 Tx_start : 113221463 Tx_end : 113298585 Exon_count : 29 Overlapped_tx_length : 77122 Overlapped_CDS_length : 2667 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113221463 Intersect_end : 113298585 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PDE1BGene_name : PDE1B; LOEUF_bin : 2 GnomAD_pLI : 3.3646e-01 ExAC_pLI : 9.4674e-01 HI : . TS : . DDD_HI_percent : 35.47 ACMG : . ExAC_cnvZ : 0.798705504785713 ExAC_delZ : 0.889738493439691 ExAC_dupZ : 0.583529140751633 ExAC_synZ : 0.364090618299356 ExAC_misZ : 2.08359798697158 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5153 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : XM_047428970 Tx_version : 1 Tx_start : 54549917 Tx_end : 54579239 Exon_count : 16 Overlapped_tx_length : 29322 Overlapped_CDS_length : 1614 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54549917 Intersect_end : 54579239 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CPNE8Gene_name : CPNE8; LOEUF_bin : 2 GnomAD_pLI : 8.0248e-03 ExAC_pLI : 7.8004e-02 HI : . TS : . DDD_HI_percent : 47.05 ACMG : . ExAC_cnvZ : -0.555468997377411 ExAC_delZ : 1.16391372692534 ExAC_dupZ : -1.19879352293933 ExAC_synZ : -0.667551989115263 ExAC_misZ : 1.34055381297645 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144402 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_153634 Tx_version : 3 Tx_start : 38652202 Tx_end : 38905591 Exon_count : 20 Overlapped_tx_length : 253389 Overlapped_CDS_length : 1695 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 38652202 Intersect_end : 38905591 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TARBP2Gene_name : TARBP2; LOEUF_bin : 2 GnomAD_pLI : 4.6644e-01 ExAC_pLI : 4.4680e-01 HI : . TS : . DDD_HI_percent : 34.61 ACMG : . ExAC_cnvZ : 1.15948340656564 ExAC_delZ : 0.696925983440805 ExAC_dupZ : 1.01363286953046 ExAC_synZ : -0.595043374304106 ExAC_misZ : 2.48033474114742 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6895 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_134323 Tx_version : 2 Tx_start : 53501282 Tx_end : 53506431 Exon_count : 9 Overlapped_tx_length : 5149 Overlapped_CDS_length : 1101 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53501282 Intersect_end : 53506431 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FAM222AGene_name : FAM222A; LOEUF_bin : 2 GnomAD_pLI : 8.5124e-01 ExAC_pLI : 4.0039e-01 HI : . TS : . DDD_HI_percent : 56.77 ACMG : . ExAC_cnvZ : 0.0642964043797667 ExAC_delZ : -0.560813949627077 ExAC_dupZ : 0.394685070340443 ExAC_synZ : 0.139987537995054 ExAC_misZ : -0.101986582073282 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84915 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_032829 Tx_version : 3 Tx_start : 109713824 Tx_end : 109770495 Exon_count : 3 Overlapped_tx_length : 56671 Overlapped_CDS_length : 1359 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109713824 Intersect_end : 109770495 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RND1Gene_name : RND1; LOEUF_bin : 2 GnomAD_pLI : 7.3701e-01 ExAC_pLI : 9.6563e-01 HI : . TS : . DDD_HI_percent : 23.66 ACMG : . ExAC_cnvZ : 1.32180646207861 ExAC_delZ : 0.869695811922652 ExAC_dupZ : 1.16871713000622 ExAC_synZ : 0.379370680227178 ExAC_misZ : 1.76239383713003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 27289 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_014470 Tx_version : 4 Tx_start : 48857144 Tx_end : 48865870 Exon_count : 5 Overlapped_tx_length : 8726 Overlapped_CDS_length : 699 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48857144 Intersect_end : 48865870 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMTC2Gene_name : TMTC2; LOEUF_bin : 2 GnomAD_pLI : 2.2549e-02 ExAC_pLI : 8.6310e-01 HI : . TS : . DDD_HI_percent : 9.29 ACMG : . ExAC_cnvZ : -0.0528759496198518 ExAC_delZ : -1.31984144093578 ExAC_dupZ : 1.00289708667625 ExAC_synZ : -0.755107736363845 ExAC_misZ : 0.0318201863429181 GenCC_disease : nonsyndromic genetic hearing loss GenCC_moi : AD GenCC_classification : Disputed Evidence GenCC_pmid : . NCBI_gene_ID : 160335 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_152588 Tx_version : 3 Tx_start : 82686905 Tx_end : 83134866 Exon_count : 12 Overlapped_tx_length : 447961 Overlapped_CDS_length : 2511 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 82686905 Intersect_end : 83134866 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NUDT4Gene_name : NUDT4; LOEUF_bin : 2 GnomAD_pLI : 7.9724e-01 ExAC_pLI : 1.6417e-01 HI : . TS : . DDD_HI_percent : 29.65 ACMG : . ExAC_cnvZ : 0.478237290628769 ExAC_delZ : 0.313205154494596 ExAC_dupZ : 0.340459566164723 ExAC_synZ : 0.245258937130391 ExAC_misZ : 0.949489459486329 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11163 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_199040 Tx_version : 4 Tx_start : 93377924 Tx_end : 93408146 Exon_count : 5 Overlapped_tx_length : 30222 Overlapped_CDS_length : 546 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93377924 Intersect_end : 93408146 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NUAK1Gene_name : NUAK1; LOEUF_bin : 2 GnomAD_pLI : 9.8693e-02 ExAC_pLI : 1.8903e-01 HI : . TS : . DDD_HI_percent : 30.88 ACMG : . ExAC_cnvZ : 0.897707773424162 ExAC_delZ : 0.438890407612078 ExAC_dupZ : 0.787242682552862 ExAC_synZ : -0.123787689901562 ExAC_misZ : 2.2797902937974 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9891 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_014840 Tx_version : 3 Tx_start : 106063344 Tx_end : 106138954 Exon_count : 7 Overlapped_tx_length : 75610 Overlapped_CDS_length : 1986 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106063344 Intersect_end : 106138954 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TBC1D15Gene_name : TBC1D15; LOEUF_bin : 2 GnomAD_pLI : 6.1520e-02 ExAC_pLI : 1.4872e-01 HI : . TS : . DDD_HI_percent : 13.97 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.185758488894497 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.46300565501474 ExAC_misZ : 0.0134988587541383 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64786 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : XM_006719564 Tx_version : 3 Tx_start : 71861404 Tx_end : 71924313 Exon_count : 18 Overlapped_tx_length : 62909 Overlapped_CDS_length : 2100 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71861404 Intersect_end : 71924313 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RACGAP1Gene_name : RACGAP1; LOEUF_bin : 2 GnomAD_pLI : 1.7041e-03 ExAC_pLI : 7.8637e-01 HI : . TS : . DDD_HI_percent : 2.75 ACMG : . ExAC_cnvZ : 1.23296772730997 ExAC_delZ : 0.853354933533196 ExAC_dupZ : 1.19828290073511 ExAC_synZ : -0.0986826486257814 ExAC_misZ : 1.91324058599544 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 29127 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_024448958 Tx_version : 2 Tx_start : 49989161 Tx_end : 50033440 Exon_count : 19 Overlapped_tx_length : 44279 Overlapped_CDS_length : 1956 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49989161 Intersect_end : 50033440 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CKAP4Gene_name : CKAP4; LOEUF_bin : 2 GnomAD_pLI : 5.0863e-01 ExAC_pLI : 8.9186e-01 HI : . TS : . DDD_HI_percent : 76.47 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.594223699757869 ExAC_misZ : 1.29098730036586 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10970 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_006825 Tx_version : 4 Tx_start : 106237880 Tx_end : 106248020 Exon_count : 2 Overlapped_tx_length : 10140 Overlapped_CDS_length : 1809 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106237880 Intersect_end : 106248020 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
VEZTGene_name : VEZT; LOEUF_bin : 2 GnomAD_pLI : 1.1018e-01 ExAC_pLI : 2.5937e-02 HI : . TS : . DDD_HI_percent : 32.61 ACMG : . ExAC_cnvZ : 1.51289205123955 ExAC_delZ : 1.07922079920451 ExAC_dupZ : 1.30590622269097 ExAC_synZ : -0.43441707436122 ExAC_misZ : -1.08154759910693 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55591 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_001352088 Tx_version : 2 Tx_start : 95217806 Tx_end : 95302799 Exon_count : 13 Overlapped_tx_length : 84993 Overlapped_CDS_length : 2409 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95217806 Intersect_end : 95302799 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FGD6Gene_name : FGD6; LOEUF_bin : 2 GnomAD_pLI : 2.4019e-08 ExAC_pLI : 9.9523e-01 HI : . TS : . DDD_HI_percent : 53.07 ACMG : . ExAC_cnvZ : 0.123116904859452 ExAC_delZ : -0.668104590582154 ExAC_dupZ : 0.611090776529598 ExAC_synZ : 0.297898178917382 ExAC_misZ : -0.563915329463334 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55785 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_018351 Tx_version : 4 Tx_start : 95076748 Tx_end : 95217467 Exon_count : 21 Overlapped_tx_length : 140719 Overlapped_CDS_length : 4293 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95076748 Intersect_end : 95217467 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MCRS1Gene_name : MCRS1; LOEUF_bin : 2 GnomAD_pLI : 1.6561e-01 ExAC_pLI : 6.6536e-02 HI : . TS : . DDD_HI_percent : 13.25 ACMG : . ExAC_cnvZ : 1.09751734511438 ExAC_delZ : 1.23442417482211 ExAC_dupZ : 0.788419187484601 ExAC_synZ : -1.63028817255841 ExAC_misZ : 2.05288243641161 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10445 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_017018690 Tx_version : 2 Tx_start : 49558298 Tx_end : 49568142 Exon_count : 16 Overlapped_tx_length : 9844 Overlapped_CDS_length : 1428 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49558298 Intersect_end : 49568142 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZC3H10Gene_name : ZC3H10; LOEUF_bin : 3 GnomAD_pLI : 3.1615e-01 ExAC_pLI : 7.9202e-01 HI : . TS : . DDD_HI_percent : 29.55 ACMG : . ExAC_cnvZ : 0.336654190518995 ExAC_delZ : -0.0151788235600143 ExAC_dupZ : 0.308546313058536 ExAC_synZ : -0.632711449270742 ExAC_misZ : 2.77483601131347 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84872 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001303124 Tx_version : 2 Tx_start : 56118265 Tx_end : 56127514 Exon_count : 3 Overlapped_tx_length : 9249 Overlapped_CDS_length : 1305 Overlapped_CDS_percent : 18 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56118265 Intersect_end : 56127514 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DRAM1Gene_name : DRAM1; LOEUF_bin : 3 GnomAD_pLI : 2.2771e-01 ExAC_pLI : 8.0700e-02 HI : . TS : . DDD_HI_percent : 31.09 ACMG : . ExAC_cnvZ : 0.846057625477823 ExAC_delZ : 0.723182851788098 ExAC_dupZ : 0.608345086368493 ExAC_synZ : 0.00631183135408472 ExAC_misZ : 2.06455090226699 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55332 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_018370 Tx_version : 3 Tx_start : 101877579 Tx_end : 101923612 Exon_count : 7 Overlapped_tx_length : 46033 Overlapped_CDS_length : 717 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101877579 Intersect_end : 101923612 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HSD17B6Gene_name : HSD17B6; LOEUF_bin : 3 GnomAD_pLI : 3.4807e-01 ExAC_pLI : 3.8199e-01 HI : . TS : . DDD_HI_percent : 13.11 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.117356991470095 ExAC_misZ : -0.551921728609147 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8630 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_003725 Tx_version : 4 Tx_start : 56763323 Tx_end : 56787790 Exon_count : 5 Overlapped_tx_length : 24467 Overlapped_CDS_length : 954 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56763323 Intersect_end : 56787790 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SPICGene_name : SPIC; LOEUF_bin : 3 GnomAD_pLI : 3.0668e-01 ExAC_pLI : 1.1841e-01 HI : . TS : . DDD_HI_percent : 68.05 ACMG : . ExAC_cnvZ : 0.250839012348627 ExAC_delZ : -0.512567877014538 ExAC_dupZ : 0.692315446620603 ExAC_synZ : -0.622499022181303 ExAC_misZ : 0.163080443139914 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121599 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_152323 Tx_version : 3 Tx_start : 101475335 Tx_end : 101486997 Exon_count : 6 Overlapped_tx_length : 11662 Overlapped_CDS_length : 747 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101475335 Intersect_end : 101486997 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PIP4K2CGene_name : PIP4K2C; LOEUF_bin : 3 GnomAD_pLI : 1.8314e-03 ExAC_pLI : 1.3379e-02 HI : . TS : . DDD_HI_percent : 36.27 ACMG : . ExAC_cnvZ : 0.671590620291166 ExAC_delZ : 1.06350574643085 ExAC_dupZ : 0.295885850378005 ExAC_synZ : 0.488481038845259 ExAC_misZ : 1.54620180916019 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79837 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001146258 Tx_version : 2 Tx_start : 57591191 Tx_end : 57603418 Exon_count : 11 Overlapped_tx_length : 12227 Overlapped_CDS_length : 1266 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57591191 Intersect_end : 57603418 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
EID3Gene_name : EID3; LOEUF_bin : 3 GnomAD_pLI : 4.0761e-01 ExAC_pLI : 2.3761e-01 HI : . TS : . DDD_HI_percent : 88.55 ACMG : . ExAC_cnvZ : -0.61781503273049 ExAC_delZ : 0.474329351879673 ExAC_dupZ : -1.02434648030625 ExAC_synZ : 0.631286749758394 ExAC_misZ : 0.0847359841438306 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 493861 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001008394 Tx_version : 3 Tx_start : 104303738 Tx_end : 104305205 Exon_count : 1 Overlapped_tx_length : 1467 Overlapped_CDS_length : 1002 Overlapped_CDS_percent : 78 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104303738 Intersect_end : 104305205 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ASCL1Gene_name : ASCL1; LOEUF_bin : 3 GnomAD_pLI : 6.7692e-01 ExAC_pLI : 3.6474e-01 HI : . TS : . DDD_HI_percent : 3.46 ACMG : . ExAC_cnvZ : 0.375024931230988 ExAC_delZ : -0.0244004924191008 ExAC_dupZ : 0.387920799972153 ExAC_synZ : 2.8352808223177 ExAC_misZ : 3.01825936854966 GenCC_disease : Haddad syndrome GenCC_moi : AD GenCC_classification : Supportive GenCC_pmid : NULL NCBI_gene_ID : 429 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_004316 Tx_version : 4 Tx_start : 102957673 Tx_end : 102960513 Exon_count : 2 Overlapped_tx_length : 2840 Overlapped_CDS_length : 711 Overlapped_CDS_percent : 93 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102957673 Intersect_end : 102960513 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.04 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZNF641Gene_name : ZNF641; LOEUF_bin : 3 GnomAD_pLI : 4.5726e-03 ExAC_pLI : 2.2842e-01 HI : . TS : . DDD_HI_percent : 47.1 ACMG : . ExAC_cnvZ : 0.848178110955003 ExAC_delZ : 0.378319855730135 ExAC_dupZ : 0.75309017315817 ExAC_synZ : 0.101517965314806 ExAC_misZ : 0.577958096408571 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121274 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_152320 Tx_version : 3 Tx_start : 48337179 Tx_end : 48350919 Exon_count : 7 Overlapped_tx_length : 13740 Overlapped_CDS_length : 1317 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48337179 Intersect_end : 48350919 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MPHOSPH9Gene_name : MPHOSPH9; LOEUF_bin : 3 GnomAD_pLI : 1.6616e-10 ExAC_pLI : 7.5999e-04 HI : . TS : . DDD_HI_percent : 47.37 ACMG : . ExAC_cnvZ : -0.679251879226777 ExAC_delZ : -0.397176816327842 ExAC_dupZ : -0.887728062301986 ExAC_synZ : 1.08504327323265 ExAC_misZ : -0.116304936477145 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10198 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_017018673 Tx_version : 2 Tx_start : 123152323 Tx_end : 123244002 Exon_count : 25 Overlapped_tx_length : 91679 Overlapped_CDS_length : 3552 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123152323 Intersect_end : 123244002 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LGR5Gene_name : LGR5; LOEUF_bin : 3 GnomAD_pLI : 2.5019e-08 ExAC_pLI : 1.1357e-05 HI : . TS : . DDD_HI_percent : 15.1 ACMG : . ExAC_cnvZ : -0.376906338333388 ExAC_delZ : 0.341659164305674 ExAC_dupZ : -0.747571275118055 ExAC_synZ : 0.042487549055786 ExAC_misZ : -1.28832304107549 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8549 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_003667 Tx_version : 4 Tx_start : 71439797 Tx_end : 71586310 Exon_count : 18 Overlapped_tx_length : 146513 Overlapped_CDS_length : 2724 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71439797 Intersect_end : 71586310 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DDX54Gene_name : DDX54; LOEUF_bin : 3 GnomAD_pLI : 4.7418e-09 ExAC_pLI : 1.0415e-06 HI : . TS : . DDD_HI_percent : 57.18 ACMG : . ExAC_cnvZ : -0.0679692024753708 ExAC_delZ : 0.343345465255656 ExAC_dupZ : -0.265392001700575 ExAC_synZ : -0.0763628683395607 ExAC_misZ : 1.25374691291499 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79039 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001111322 Tx_version : 2 Tx_start : 113157172 Tx_end : 113185478 Exon_count : 20 Overlapped_tx_length : 28306 Overlapped_CDS_length : 2649 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113157172 Intersect_end : 113185478 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PDZRN4Gene_name : PDZRN4; LOEUF_bin : 3 GnomAD_pLI : 9.1425e-07 ExAC_pLI : 7.0853e-02 HI : . TS : . DDD_HI_percent : 33.32 ACMG : . ExAC_cnvZ : 0.579672650128557 ExAC_delZ : 0.757513976389389 ExAC_dupZ : 0.282025348696221 ExAC_synZ : 0.808242295853336 ExAC_misZ : 0.952578173847176 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 29951 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001164595 Tx_version : 2 Tx_start : 41188319 Tx_end : 41574745 Exon_count : 10 Overlapped_tx_length : 386426 Overlapped_CDS_length : 3111 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41188319 Intersect_end : 41574745 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
UBCGene_name : UBC; LOEUF_bin : 3 GnomAD_pLI : 1.4161e-01 ExAC_pLI : 7.0416e-01 HI : . TS : . DDD_HI_percent : 0.02 ACMG : . ExAC_cnvZ : 0.200258656393609 ExAC_delZ : 0.823679416809023 ExAC_dupZ : -0.147666430203572 ExAC_synZ : -0.956516576835584 ExAC_misZ : 6.27248634890221 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7316 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_021009 Tx_version : 7 Tx_start : 124911645 Tx_end : 124914650 Exon_count : 2 Overlapped_tx_length : 3005 Overlapped_CDS_length : 2058 Overlapped_CDS_percent : 99 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124911645 Intersect_end : 124914650 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RPAP3Gene_name : RPAP3; LOEUF_bin : 3 GnomAD_pLI : 6.9941e-05 ExAC_pLI : 1.4031e-01 HI : . TS : . DDD_HI_percent : 19.41 ACMG : . ExAC_cnvZ : 0.279817250525671 ExAC_delZ : -0.297289484758616 ExAC_dupZ : 0.565374654969141 ExAC_synZ : 0.39522092875769 ExAC_misZ : -0.774369905457764 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79657 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_024604 Tx_version : 3 Tx_start : 47661248 Tx_end : 47706030 Exon_count : 17 Overlapped_tx_length : 44782 Overlapped_CDS_length : 1998 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47661248 Intersect_end : 47706030 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LTA4HGene_name : LTA4H; LOEUF_bin : 3 GnomAD_pLI : 2.9568e-08 ExAC_pLI : 4.9422e-02 HI : . TS : . DDD_HI_percent : 26.37 ACMG : . ExAC_cnvZ : 0.215298606346043 ExAC_delZ : 1.0052682543581 ExAC_dupZ : -0.222752272998088 ExAC_synZ : 0.266929156221139 ExAC_misZ : 0.594130606490527 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4048 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_000895 Tx_version : 3 Tx_start : 96000752 Tx_end : 96035587 Exon_count : 19 Overlapped_tx_length : 34835 Overlapped_CDS_length : 1836 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 96000752 Intersect_end : 96035587 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC6A15Gene_name : SLC6A15; LOEUF_bin : 3 GnomAD_pLI : 6.0384e-04 ExAC_pLI : 2.2626e-03 HI : . TS : . DDD_HI_percent : 19.12 ACMG : . ExAC_cnvZ : 0.314246567400964 ExAC_delZ : -0.460875205686932 ExAC_dupZ : 0.75644976282688 ExAC_synZ : -1.53405648957803 ExAC_misZ : 1.14765038370914 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55117 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_182767 Tx_version : 6 Tx_start : 84859490 Tx_end : 84912799 Exon_count : 12 Overlapped_tx_length : 53309 Overlapped_CDS_length : 2193 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 84859490 Intersect_end : 84912799 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ABCB9Gene_name : ABCB9; LOEUF_bin : 3 GnomAD_pLI : 2.5164e-04 ExAC_pLI : 2.9011e-03 HI : . TS : . DDD_HI_percent : 33.98 ACMG : . ExAC_cnvZ : -0.0899018842275931 ExAC_delZ : 0.481133217982375 ExAC_dupZ : -0.365986949231359 ExAC_synZ : 0.0853215016483534 ExAC_misZ : 0.742579455656324 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23457 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_011538095 Tx_version : 3 Tx_start : 122928991 Tx_end : 122975114 Exon_count : 12 Overlapped_tx_length : 46123 Overlapped_CDS_length : 2301 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122928991 Intersect_end : 122975114 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMBIM6Gene_name : TMBIM6; LOEUF_bin : 3 GnomAD_pLI : 1.5024e-02 ExAC_pLI : 1.6170e-02 HI : . TS : . DDD_HI_percent : 14.57 ACMG : . ExAC_cnvZ : 1.29929849549511 ExAC_delZ : 1.47297466016855 ExAC_dupZ : 0.917199681545006 ExAC_synZ : -0.484463706564371 ExAC_misZ : 0.811123719648158 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7009 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_005269126 Tx_version : 5 Tx_start : 49741556 Tx_end : 49764934 Exon_count : 11 Overlapped_tx_length : 23378 Overlapped_CDS_length : 888 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49741556 Intersect_end : 49764934 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BTG1Gene_name : BTG1; LOEUF_bin : 3 GnomAD_pLI : 5.3641e-01 ExAC_pLI : 4.8316e-01 HI : . TS : . DDD_HI_percent : 10.06 ACMG : . ExAC_cnvZ : 0.852407017291512 ExAC_delZ : 0.398634478759615 ExAC_dupZ : 0.751710978812396 ExAC_synZ : -0.259272418338207 ExAC_misZ : 1.42199103781776 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 694 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_001731 Tx_version : 3 Tx_start : 92140277 Tx_end : 92145846 Exon_count : 2 Overlapped_tx_length : 5569 Overlapped_CDS_length : 516 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92140277 Intersect_end : 92145846 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PTPRRGene_name : PTPRR; LOEUF_bin : 3 GnomAD_pLI : 8.7415e-07 ExAC_pLI : 4.3048e-04 HI : . TS : . DDD_HI_percent : 19.75 ACMG : . ExAC_cnvZ : 1.10013658031582 ExAC_delZ : 0.736400174966979 ExAC_dupZ : 1.0808777914324 ExAC_synZ : -0.776555754824937 ExAC_misZ : -0.521715176438812 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5801 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_002849 Tx_version : 4 Tx_start : 70638078 Tx_end : 70920738 Exon_count : 14 Overlapped_tx_length : 282660 Overlapped_CDS_length : 1974 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 70638078 Intersect_end : 70920738 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC6Gene_name : HOXC6; LOEUF_bin : 3 GnomAD_pLI : 5.1165e-01 ExAC_pLI : 9.0769e-01 HI : . TS : . DDD_HI_percent : 1.86 ACMG : . ExAC_cnvZ : 0.00962755840847435 ExAC_delZ : 0.105038219695132 ExAC_dupZ : -0.0761810777563762 ExAC_synZ : 1.90070449602263 ExAC_misZ : 2.58535179655888 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3223 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_004503 Tx_version : 4 Tx_start : 54028439 Tx_end : 54030823 Exon_count : 2 Overlapped_tx_length : 2384 Overlapped_CDS_length : 708 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54028439 Intersect_end : 54030823 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM120BGene_name : TMEM120B; LOEUF_bin : 3 GnomAD_pLI : 7.1229e-03 ExAC_pLI : 2.6438e-01 HI : . TS : . DDD_HI_percent : 36.06 ACMG : . ExAC_cnvZ : -0.228317645656776 ExAC_delZ : -1.05100487201686 ExAC_dupZ : 0.357651568638065 ExAC_synZ : 0.170032895104573 ExAC_misZ : 1.42166512200214 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144404 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001080825 Tx_version : 2 Tx_start : 121712751 Tx_end : 121782068 Exon_count : 12 Overlapped_tx_length : 69317 Overlapped_CDS_length : 1020 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121712751 Intersect_end : 121782068 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ARPC3Gene_name : ARPC3; LOEUF_bin : 3 GnomAD_pLI : 2.1578e-01 ExAC_pLI : 9.3151e-01 HI : . TS : . DDD_HI_percent : 7.37 ACMG : . ExAC_cnvZ : -0.339472557789249 ExAC_delZ : 0.264684921550718 ExAC_dupZ : -0.628205948239097 ExAC_synZ : 1.44218445022117 ExAC_misZ : -0.191335560161305 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10094 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001278556 Tx_version : 2 Tx_start : 110434822 Tx_end : 110450337 Exon_count : 7 Overlapped_tx_length : 15515 Overlapped_CDS_length : 537 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110434822 Intersect_end : 110450337 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ITGB7Gene_name : ITGB7; LOEUF_bin : 3 GnomAD_pLI : 2.3661e-06 ExAC_pLI : 2.6542e-03 HI : . TS : . DDD_HI_percent : 35.55 ACMG : . ExAC_cnvZ : 0.851326348354226 ExAC_delZ : 0.690985349812492 ExAC_dupZ : 0.658264583135349 ExAC_synZ : -0.761627815437427 ExAC_misZ : 1.78754938624807 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3695 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_000889 Tx_version : 3 Tx_start : 53191322 Tx_end : 53207251 Exon_count : 16 Overlapped_tx_length : 15929 Overlapped_CDS_length : 2397 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53191322 Intersect_end : 53207251 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BCL7AGene_name : BCL7A; LOEUF_bin : 3 GnomAD_pLI : 7.8230e-02 ExAC_pLI : 2.1573e-01 HI : . TS : . DDD_HI_percent : 40.51 ACMG : . ExAC_cnvZ : 1.06738428509055 ExAC_delZ : 0.60153178491759 ExAC_dupZ : 0.930753732480629 ExAC_synZ : 1.26204405682002 ExAC_misZ : 0.811296362003719 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 605 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_020993 Tx_version : 5 Tx_start : 122021883 Tx_end : 122062044 Exon_count : 6 Overlapped_tx_length : 40161 Overlapped_CDS_length : 696 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122021883 Intersect_end : 122062044 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TFCP2Gene_name : TFCP2; LOEUF_bin : 3 GnomAD_pLI : 3.5836e-06 ExAC_pLI : 1.0242e-04 HI : . TS : . DDD_HI_percent : 9.23 ACMG : . ExAC_cnvZ : -0.545921277805353 ExAC_delZ : -2.29464108081411 ExAC_dupZ : 0.940542548851702 ExAC_synZ : 0.572345237206585 ExAC_misZ : 3.00368954506954 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7024 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12-q13.13 Location2 : 5'UTR-3'UTR Tx : NM_005653 Tx_version : 5 Tx_start : 51093655 Tx_end : 51173135 Exon_count : 15 Overlapped_tx_length : 79480 Overlapped_CDS_length : 1509 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51093655 Intersect_end : 51173135 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BRAPGene_name : BRAP; LOEUF_bin : 3 GnomAD_pLI : 3.7512e-06 ExAC_pLI : 1.5703e-02 HI : . TS : . DDD_HI_percent : 10.27 ACMG : . ExAC_cnvZ : 0.979319669056132 ExAC_delZ : 0.309855816341055 ExAC_dupZ : 1.10451150862351 ExAC_synZ : 0.294005047876714 ExAC_misZ : 2.42829021442114 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8315 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : 5'UTR-3'UTR Tx : XM_005253944 Tx_version : 5 Tx_start : 111642145 Tx_end : 111685956 Exon_count : 12 Overlapped_tx_length : 43811 Overlapped_CDS_length : 1902 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111642145 Intersect_end : 111685956 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DTX1Gene_name : DTX1; LOEUF_bin : 3 GnomAD_pLI : 9.8982e-04 ExAC_pLI : 1.2559e-03 HI : . TS : . DDD_HI_percent : 51.18 ACMG : . ExAC_cnvZ : 0.266739694196045 ExAC_delZ : -0.618440371150917 ExAC_dupZ : 0.791222793322939 ExAC_synZ : 2.98489724444198 ExAC_misZ : 5.0242664727069 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1840 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_004416 Tx_version : 3 Tx_start : 113056729 Tx_end : 113098025 Exon_count : 10 Overlapped_tx_length : 41296 Overlapped_CDS_length : 1863 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113056729 Intersect_end : 113098025 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PAWRGene_name : PAWR; LOEUF_bin : 3 GnomAD_pLI : 8.9515e-02 ExAC_pLI : 4.4246e-01 HI : . TS : . DDD_HI_percent : 67.51 ACMG : . ExAC_cnvZ : 0.288631244923916 ExAC_delZ : -0.709366710213392 ExAC_dupZ : 0.934808161222043 ExAC_synZ : 0.854776231718507 ExAC_misZ : 0.940899247500592 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5074 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_002583 Tx_version : 4 Tx_start : 79584878 Tx_end : 79690964 Exon_count : 7 Overlapped_tx_length : 106086 Overlapped_CDS_length : 1023 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 79584878 Intersect_end : 79690964 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CACNB3Gene_name : CACNB3; LOEUF_bin : 3 GnomAD_pLI : 2.8915e-04 ExAC_pLI : 4.9584e-02 HI : . TS : . DDD_HI_percent : 22.36 ACMG : . ExAC_cnvZ : 1.24217404963439 ExAC_delZ : 0.76947032581755 ExAC_dupZ : 1.08874689736433 ExAC_synZ : 0.194989478261501 ExAC_misZ : 1.95010572490526 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 784 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_047429525 Tx_version : 1 Tx_start : 48814479 Tx_end : 48828941 Exon_count : 15 Overlapped_tx_length : 14462 Overlapped_CDS_length : 1455 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48814479 Intersect_end : 48828941 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TESCGene_name : TESC; LOEUF_bin : 3 GnomAD_pLI : 1.0778e-01 ExAC_pLI : 6.9214e-01 HI : . TS : . DDD_HI_percent : 21.51 ACMG : . ExAC_cnvZ : 0.221886548161228 ExAC_delZ : 0.324578990859495 ExAC_dupZ : 0.0431395191931527 ExAC_synZ : -0.535987587909241 ExAC_misZ : 1.07529118402585 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 54997 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : 5'UTR-3'UTR Tx : NM_017899 Tx_version : 4 Tx_start : 117038922 Tx_end : 117099416 Exon_count : 8 Overlapped_tx_length : 60494 Overlapped_CDS_length : 645 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 117038922 Intersect_end : 117099416 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DDIT3Gene_name : DDIT3; LOEUF_bin : 3 GnomAD_pLI : 5.9066e-01 ExAC_pLI : 5.1550e-01 HI : . TS : . DDD_HI_percent : 8.02 ACMG : . ExAC_cnvZ : 0.866905589398553 ExAC_delZ : 0.419225524552749 ExAC_dupZ : 0.756083766030382 ExAC_synZ : -0.533094914174922 ExAC_misZ : -0.589480842174978 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1649 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001195053 Tx_version : 1 Tx_start : 57516587 Tx_end : 57520517 Exon_count : 4 Overlapped_tx_length : 3930 Overlapped_CDS_length : 579 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57516587 Intersect_end : 57520517 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ARL1Gene_name : ARL1; LOEUF_bin : 3 GnomAD_pLI : 9.3716e-02 ExAC_pLI : 4.8026e-01 HI : . TS : . DDD_HI_percent : 14.32 ACMG : . ExAC_cnvZ : 0.683972299788578 ExAC_delZ : 0.562512908172033 ExAC_dupZ : 0.467210192721489 ExAC_synZ : 0.778858559618387 ExAC_misZ : 2.29468365632642 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57016 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001177 Tx_version : 6 Tx_start : 101393115 Tx_end : 101407772 Exon_count : 6 Overlapped_tx_length : 14657 Overlapped_CDS_length : 546 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101393115 Intersect_end : 101407772 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRR1Gene_name : KRR1; LOEUF_bin : 3 GnomAD_pLI : 6.9317e-04 ExAC_pLI : 1.9351e-02 HI : . TS : . DDD_HI_percent : 6.76 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.945297766334766 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.718129299171964 ExAC_misZ : -0.677467344316406 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11103 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_007043 Tx_version : 7 Tx_start : 75490862 Tx_end : 75511609 Exon_count : 10 Overlapped_tx_length : 20747 Overlapped_CDS_length : 1146 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75490862 Intersect_end : 75511609 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
USP30Gene_name : USP30; LOEUF_bin : 3 GnomAD_pLI : 8.2501e-05 ExAC_pLI : 3.0901e-01 HI : . TS : . DDD_HI_percent : 50.57 ACMG : . ExAC_cnvZ : 1.11297158266734 ExAC_delZ : 1.27609280554857 ExAC_dupZ : 0.743496613576796 ExAC_synZ : 0.238066733680306 ExAC_misZ : 1.46361907421849 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84749 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_017020048 Tx_version : 2 Tx_start : 109052575 Tx_end : 109088023 Exon_count : 13 Overlapped_tx_length : 35448 Overlapped_CDS_length : 1665 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109052575 Intersect_end : 109088023 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IL23AGene_name : IL23A; LOEUF_bin : 3 GnomAD_pLI : 3.5806e-01 ExAC_pLI : 8.4244e-01 HI : . TS : . DDD_HI_percent : 30.91 ACMG : . ExAC_cnvZ : 0.9374137224941 ExAC_delZ : 0.467056042525277 ExAC_dupZ : 0.828013348255952 ExAC_synZ : 0.173985207038693 ExAC_misZ : -0.00203564645387621 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51561 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_016584 Tx_version : 3 Tx_start : 56338883 Tx_end : 56340410 Exon_count : 4 Overlapped_tx_length : 1527 Overlapped_CDS_length : 570 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56338883 Intersect_end : 56340410 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TXNRD1Gene_name : TXNRD1; LOEUF_bin : 3 GnomAD_pLI : 1.6062e-06 ExAC_pLI : 2.3375e-03 HI : . TS : . DDD_HI_percent : 40.04 ACMG : . ExAC_cnvZ : -0.921779623857746 ExAC_delZ : -0.536334703461815 ExAC_dupZ : -1.07182415193518 ExAC_synZ : 1.29042173878669 ExAC_misZ : -0.125685708536784 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7296 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001093771 Tx_version : 3 Tx_start : 104215778 Tx_end : 104350307 Exon_count : 17 Overlapped_tx_length : 134529 Overlapped_CDS_length : 1950 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104215778 Intersect_end : 104350307 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZNF740Gene_name : ZNF740; LOEUF_bin : 3 GnomAD_pLI : 1.8968e-01 ExAC_pLI : 6.5375e-01 HI : . TS : . DDD_HI_percent : 17.97 ACMG : . ExAC_cnvZ : 0.38854384640755 ExAC_delZ : 0.210921012172331 ExAC_dupZ : 0.287070996981878 ExAC_synZ : 0.329641783594946 ExAC_misZ : 0.850772898580988 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283337 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001004304 Tx_version : 4 Tx_start : 53180721 Tx_end : 53195142 Exon_count : 7 Overlapped_tx_length : 14421 Overlapped_CDS_length : 582 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53180721 Intersect_end : 53195142 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AMN1Gene_name : AMN1; LOEUF_bin : 3 GnomAD_pLI : 3.2526e-01 ExAC_pLI : 2.0103e-02 HI : . TS : . DDD_HI_percent : 55.7 ACMG : . ExAC_cnvZ : 0.611467883690765 ExAC_delZ : -0.0576374277715129 ExAC_dupZ : 0.797551655820256 ExAC_synZ : 0.504393652500024 ExAC_misZ : 0.934691719583174 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 196394 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_001113402 Tx_version : 2 Tx_start : 31671141 Tx_end : 31729021 Exon_count : 7 Overlapped_tx_length : 57880 Overlapped_CDS_length : 777 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31671141 Intersect_end : 31729021 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ABCD2Gene_name : ABCD2; LOEUF_bin : 3 GnomAD_pLI : 4.7079e-06 ExAC_pLI : 2.9698e-06 HI : . TS : . DDD_HI_percent : 39.2 ACMG : . ExAC_cnvZ : -0.071807743743491 ExAC_delZ : 0.932390604637237 ExAC_dupZ : -0.55973594063236 ExAC_synZ : -0.597466061640862 ExAC_misZ : 2.3422670276704 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 225 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_005164 Tx_version : 4 Tx_start : 39550032 Tx_end : 39619803 Exon_count : 10 Overlapped_tx_length : 69771 Overlapped_CDS_length : 2223 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39550032 Intersect_end : 39619803 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
METAP2Gene_name : METAP2; LOEUF_bin : 3 GnomAD_pLI : 3.9908e-03 ExAC_pLI : 9.0638e-01 HI : . TS : . DDD_HI_percent : 3.37 ACMG : . ExAC_cnvZ : 1.03105501746901 ExAC_delZ : 1.19959147344569 ExAC_dupZ : 0.686398576666461 ExAC_synZ : -0.661691862637164 ExAC_misZ : 2.77552216932301 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10988 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_006838 Tx_version : 4 Tx_start : 95474151 Tx_end : 95515839 Exon_count : 11 Overlapped_tx_length : 41688 Overlapped_CDS_length : 1437 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95474151 Intersect_end : 95515839 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RAB21Gene_name : RAB21; LOEUF_bin : 3 GnomAD_pLI : 1.1110e-01 ExAC_pLI : 8.8234e-01 HI : . TS : . DDD_HI_percent : 13.26 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -0.52733976374708 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 1.29613923967396 ExAC_misZ : 0.666165631373846 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23011 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_014999 Tx_version : 4 Tx_start : 71754862 Tx_end : 71800286 Exon_count : 7 Overlapped_tx_length : 45424 Overlapped_CDS_length : 678 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71754862 Intersect_end : 71800286 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CTDSP2Gene_name : CTDSP2; LOEUF_bin : 3 GnomAD_pLI : 1.1425e-01 ExAC_pLI : 3.9767e-01 HI : . TS : . DDD_HI_percent : 13.56 ACMG : . ExAC_cnvZ : -0.30145637794984 ExAC_delZ : -0.53727936778781 ExAC_dupZ : -0.140347266223833 ExAC_synZ : 0.258709488687683 ExAC_misZ : 1.70588825110132 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10106 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : XM_005268556 Tx_version : 3 Tx_start : 57819926 Tx_end : 57846729 Exon_count : 8 Overlapped_tx_length : 26803 Overlapped_CDS_length : 834 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57819926 Intersect_end : 57846729 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TSPAN31Gene_name : TSPAN31; LOEUF_bin : 3 GnomAD_pLI : 2.1925e-01 ExAC_pLI : 3.2726e-01 HI : . TS : . DDD_HI_percent : 41.84 ACMG : . ExAC_cnvZ : -1.78700844097365 ExAC_delZ : -2.09493606869518 ExAC_dupZ : -1.682808711395 ExAC_synZ : 0.766523108242074 ExAC_misZ : 0.877083630545376 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6302 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_005981 Tx_version : 5 Tx_start : 57745038 Tx_end : 57750219 Exon_count : 6 Overlapped_tx_length : 5181 Overlapped_CDS_length : 633 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57745038 Intersect_end : 57750219 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CD63Gene_name : CD63; LOEUF_bin : 4 GnomAD_pLI : 1.7439e-02 ExAC_pLI : 7.1608e-03 HI : . TS : . DDD_HI_percent : 68.15 ACMG : . ExAC_cnvZ : 0.896774966675364 ExAC_delZ : 0.754586084702843 ExAC_dupZ : 0.669358390163655 ExAC_synZ : 0.492603382982457 ExAC_misZ : 0.958002249576241 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 967 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001413284 Tx_version : 1 Tx_start : 55723534 Tx_end : 55729009 Exon_count : 9 Overlapped_tx_length : 5475 Overlapped_CDS_length : 717 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55723534 Intersect_end : 55729009 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
13P_snvindel_nb : 13 P_snvindel_phen : Congenital_stationary_night_blindness; Fundus_albipunctatus,_autosomal_recessive; Pigmentary_retinal_dystrophy; RDH5-related_condition; Retinal_dystrophy; Retinitis_punctata_albescens; See_cases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PIWIL1Gene_name : PIWIL1; LOEUF_bin : 4 GnomAD_pLI : 7.2798e-14 ExAC_pLI : 2.1258e-07 HI : . TS : . DDD_HI_percent : 51.58 ACMG : . ExAC_cnvZ : -1.52243930401407 ExAC_delZ : -0.226139052835922 ExAC_dupZ : -2.06632346033158 ExAC_synZ : -0.558413735644636 ExAC_misZ : 3.10298598060469 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9271 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : NM_004764 Tx_version : 5 Tx_start : 130337886 Tx_end : 130372637 Exon_count : 21 Overlapped_tx_length : 34751 Overlapped_CDS_length : 2586 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130337886 Intersect_end : 130372637 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM117Gene_name : TMEM117; LOEUF_bin : 4 GnomAD_pLI : 2.9608e-06 ExAC_pLI : 3.5742e-05 HI : . TS : . DDD_HI_percent : 12.8 ACMG : . ExAC_cnvZ : 0.405702655748648 ExAC_delZ : 0.110609011097513 ExAC_dupZ : 0.478492748516096 ExAC_synZ : 0.398199750989567 ExAC_misZ : 1.03034641448507 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84216 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : XM_047429662 Tx_version : 1 Tx_start : 43795801 Tx_end : 44389758 Exon_count : 9 Overlapped_tx_length : 593957 Overlapped_CDS_length : 1545 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 43795801 Intersect_end : 44389758 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001145199 Tx_version : 2 Tx_start : 105330690 Tx_end : 105371518 Exon_count : 6 Overlapped_tx_length : 40828 Overlapped_CDS_length : 192 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105330690 Intersect_end : 105371518 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TESPA1Gene_name : TESPA1; LOEUF_bin : 4 GnomAD_pLI : 4.6856e-06 ExAC_pLI : 1.9152e-05 HI : . TS : . DDD_HI_percent : 67.07 ACMG : . ExAC_cnvZ : 0.0422440616352352 ExAC_delZ : -0.783496288282675 ExAC_dupZ : 0.57754568285999 ExAC_synZ : 0.195603899268146 ExAC_misZ : 0.0585772979129123 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9840 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : XM_047429930 Tx_version : 1 Tx_start : 54948014 Tx_end : 54985188 Exon_count : 12 Overlapped_tx_length : 37174 Overlapped_CDS_length : 1566 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54948014 Intersect_end : 54985188 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
STAB2Gene_name : STAB2; LOEUF_bin : 4 GnomAD_pLI : 9.2343e-62 ExAC_pLI : 4.1757e-28 HI : . TS : . DDD_HI_percent : 79.86 ACMG : . ExAC_cnvZ : -0.888500367818853 ExAC_delZ : -2.24547816004925 ExAC_dupZ : -0.32099081390712 ExAC_synZ : 0.446962863482701 ExAC_misZ : -1.51550492688902 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55576 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_017564 Tx_version : 10 Tx_start : 103587272 Tx_end : 103766719 Exon_count : 69 Overlapped_tx_length : 179447 Overlapped_CDS_length : 7656 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103587272 Intersect_end : 103766719 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MGAT4CGene_name : MGAT4C; LOEUF_bin : 4 GnomAD_pLI : 6.6172e-04 ExAC_pLI : 1.1169e-02 HI : . TS : . DDD_HI_percent : 19.09 ACMG : . ExAC_cnvZ : 1.01833528593976 ExAC_delZ : 0.75826246174187 ExAC_dupZ : 0.763772059910448 ExAC_synZ : 0.464607361434275 ExAC_misZ : 1.21990950966312 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 25834 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_001351282 Tx_version : 2 Tx_start : 85955666 Tx_end : 86256391 Exon_count : 6 Overlapped_tx_length : 300725 Overlapped_CDS_length : 1551 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 85955666 Intersect_end : 86256391 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RNFT2Gene_name : RNFT2; LOEUF_bin : 4 GnomAD_pLI : 1.2018e-05 ExAC_pLI : 7.9071e-01 HI : . TS : . DDD_HI_percent : 45.39 ACMG : . ExAC_cnvZ : -0.158018641831581 ExAC_delZ : 0.407381219087561 ExAC_dupZ : -0.42623090344497 ExAC_synZ : -0.519483821379336 ExAC_misZ : 0.636617678133976 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84900 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : 5'UTR-3'UTR Tx : XM_047429745 Tx_version : 1 Tx_start : 116738314 Tx_end : 116853631 Exon_count : 11 Overlapped_tx_length : 115317 Overlapped_CDS_length : 1368 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116738314 Intersect_end : 116853631 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TRAFD1Gene_name : TRAFD1; LOEUF_bin : 4 GnomAD_pLI : 1.9412e-08 ExAC_pLI : 1.8269e-05 HI : . TS : . DDD_HI_percent : 58.98 ACMG : . ExAC_cnvZ : 0.580075946626142 ExAC_delZ : 0.432383953885255 ExAC_dupZ : 0.503869877470873 ExAC_synZ : 0.653996807139839 ExAC_misZ : -0.409962288836089 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10906 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001143906 Tx_version : 2 Tx_start : 112125559 Tx_end : 112153604 Exon_count : 12 Overlapped_tx_length : 28045 Overlapped_CDS_length : 1749 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112125559 Intersect_end : 112153604 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001145475 Tx_version : 3 Tx_start : 50327308 Tx_end : 50396609 Exon_count : 8 Overlapped_tx_length : 69301 Overlapped_CDS_length : 7056 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50327308 Intersect_end : 50396609 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR10A7Gene_name : OR10A7; LOEUF_bin : 4 GnomAD_pLI : 4.3751e-01 ExAC_pLI : 2.6810e-01 HI : . TS : . DDD_HI_percent : 81.04 ACMG : . ExAC_cnvZ : 0.18811991032058 ExAC_delZ : 0.929307191240939 ExAC_dupZ : -0.229919335744597 ExAC_synZ : -0.817765213762691 ExAC_misZ : -1.98133414606736 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121364 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005280 Tx_version : 1 Tx_start : 55221024 Tx_end : 55221975 Exon_count : 1 Overlapped_tx_length : 951 Overlapped_CDS_length : 951 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55221024 Intersect_end : 55221975 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:55214216-55225716 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PRKAG1Gene_name : PRKAG1; LOEUF_bin : 4 GnomAD_pLI : 3.6224e-05 ExAC_pLI : 1.6371e-03 HI : . TS : . DDD_HI_percent : 12.6 ACMG : . ExAC_cnvZ : -0.701498368600193 ExAC_delZ : 1.89951512592042 ExAC_dupZ : -1.5862201370227 ExAC_synZ : 0.140930553310557 ExAC_misZ : 1.96433745847547 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5571 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001206709 Tx_version : 2 Tx_start : 49002273 Tx_end : 49018776 Exon_count : 12 Overlapped_tx_length : 16503 Overlapped_CDS_length : 1023 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49002273 Intersect_end : 49018776 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
VPS37BGene_name : VPS37B; LOEUF_bin : 4 GnomAD_pLI : 5.8263e-02 ExAC_pLI : 6.7681e-01 HI : . TS : . DDD_HI_percent : 65.11 ACMG : . ExAC_cnvZ : 0.544568600795989 ExAC_delZ : 0.398843034668076 ExAC_dupZ : 0.393069824634052 ExAC_synZ : 0.108583026418489 ExAC_misZ : 0.606848468921438 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79720 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_011538743 Tx_version : 3 Tx_start : 122865329 Tx_end : 122896124 Exon_count : 5 Overlapped_tx_length : 30795 Overlapped_CDS_length : 1035 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122865329 Intersect_end : 122896124 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
C1QL4Gene_name : C1QL4; LOEUF_bin : 4 GnomAD_pLI : 4.2440e-01 ExAC_pLI : 6.2118e-01 HI : . TS : . DDD_HI_percent : 49.86 ACMG : . ExAC_cnvZ : 0.476674608046832 ExAC_delZ : 0.355439574726576 ExAC_dupZ : 0.401311264627008 ExAC_synZ : 1.66615245844961 ExAC_misZ : 2.03148054426531 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 338761 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001008223 Tx_version : 2 Tx_start : 49332408 Tx_end : 49337188 Exon_count : 2 Overlapped_tx_length : 4780 Overlapped_CDS_length : 717 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49332408 Intersect_end : 49337188 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FZD10Gene_name : FZD10; LOEUF_bin : 4 GnomAD_pLI : 5.2847e-04 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 34.56 ACMG : . ExAC_cnvZ : 0.319960733753947 ExAC_delZ : 0.0214368957981222 ExAC_dupZ : 0.282678576053499 ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11211 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : NM_007197 Tx_version : 4 Tx_start : 130162463 Tx_end : 130165740 Exon_count : 1 Overlapped_tx_length : 3277 Overlapped_CDS_length : 1746 Overlapped_CDS_percent : 62 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130162463 Intersect_end : 130165740 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NEUROD4Gene_name : NEUROD4; LOEUF_bin : 4 GnomAD_pLI : 9.7046e-02 ExAC_pLI : 1.4055e-01 HI : . TS : . DDD_HI_percent : 18.65 ACMG : . ExAC_cnvZ : 1.05242692005992 ExAC_delZ : 1.07060674191617 ExAC_dupZ : 0.758661416800177 ExAC_synZ : -1.23503118814934 ExAC_misZ : -1.53148681323907 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 58158 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_021191 Tx_version : 3 Tx_start : 55019973 Tx_end : 55030017 Exon_count : 2 Overlapped_tx_length : 10044 Overlapped_CDS_length : 996 Overlapped_CDS_percent : 27 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55019973 Intersect_end : 55030017 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NXPH4Gene_name : NXPH4; LOEUF_bin : 4 GnomAD_pLI : 2.2997e-01 ExAC_pLI : 4.6210e-01 HI : . TS : . DDD_HI_percent : 57.76 ACMG : . ExAC_cnvZ : 0.411605168943786 ExAC_delZ : -0.0407702888972427 ExAC_dupZ : 0.422777187876373 ExAC_synZ : 2.11618444967823 ExAC_misZ : 3.05870131315724 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11247 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_007224 Tx_version : 4 Tx_start : 57216793 Tx_end : 57226449 Exon_count : 2 Overlapped_tx_length : 9656 Overlapped_CDS_length : 927 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57216793 Intersect_end : 57226449 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC16A7Gene_name : SLC16A7; LOEUF_bin : 4 GnomAD_pLI : 5.8162e-03 ExAC_pLI : 1.7858e-03 HI : . TS : . DDD_HI_percent : 68.25 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.451531634792241 ExAC_misZ : -0.848983136492419 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9194 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : XM_011538989 Tx_version : 3 Tx_start : 59596028 Tx_end : 59789841 Exon_count : 7 Overlapped_tx_length : 193813 Overlapped_CDS_length : 1515 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 59596028 Intersect_end : 59789841 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:59445875-60579362 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZBTB39Gene_name : ZBTB39; LOEUF_bin : 4 GnomAD_pLI : 1.8848e-04 ExAC_pLI : 9.7309e-03 HI : . TS : . DDD_HI_percent : 37.91 ACMG : . ExAC_cnvZ : 0.495948789508995 ExAC_delZ : 0.239132821997829 ExAC_dupZ : 0.39932979941637 ExAC_synZ : 0.103939516995699 ExAC_misZ : -0.482126644515452 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9880 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_014830 Tx_version : 3 Tx_start : 56998835 Tx_end : 57006546 Exon_count : 2 Overlapped_tx_length : 7711 Overlapped_CDS_length : 2139 Overlapped_CDS_percent : 97 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56998835 Intersect_end : 57006546 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TWF1Gene_name : TWF1; LOEUF_bin : 4 GnomAD_pLI : 2.0870e-05 ExAC_pLI : 7.9637e-03 HI : . TS : . DDD_HI_percent : 19.2 ACMG : . ExAC_cnvZ : 0.560007180031079 ExAC_delZ : 0.171836078375656 ExAC_dupZ : 0.598714211922053 ExAC_synZ : 0.994587462241109 ExAC_misZ : 0.710965953969985 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5756 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001242397 Tx_version : 2 Tx_start : 43793722 Tx_end : 43806317 Exon_count : 10 Overlapped_tx_length : 12595 Overlapped_CDS_length : 1074 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 43793722 Intersect_end : 43806317 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CHPT1Gene_name : CHPT1; LOEUF_bin : 4 GnomAD_pLI : 2.4252e-04 ExAC_pLI : 3.5705e-03 HI : . TS : . DDD_HI_percent : 38.73 ACMG : . ExAC_cnvZ : 0.617801632761294 ExAC_delZ : 0.235148315531047 ExAC_dupZ : 0.643480952007403 ExAC_synZ : 0.571460650482808 ExAC_misZ : 0.729123069043302 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 56994 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_020244 Tx_version : 3 Tx_start : 101697639 Tx_end : 101729074 Exon_count : 9 Overlapped_tx_length : 31435 Overlapped_CDS_length : 1221 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101697639 Intersect_end : 101729074 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FAIM2Gene_name : FAIM2; LOEUF_bin : 4 GnomAD_pLI : 8.7012e-05 ExAC_pLI : 6.1935e-01 HI : . TS : . DDD_HI_percent : 34.67 ACMG : . ExAC_cnvZ : 0.193153309762308 ExAC_delZ : 0.431567331431883 ExAC_dupZ : 0.047234006006689 ExAC_synZ : -0.438864559800253 ExAC_misZ : 0.69388102354425 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23017 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_012306 Tx_version : 4 Tx_start : 49866895 Tx_end : 49903900 Exon_count : 12 Overlapped_tx_length : 37005 Overlapped_CDS_length : 951 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49866895 Intersect_end : 49903900 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPHLN1Gene_name : PPHLN1; LOEUF_bin : 4 GnomAD_pLI : 3.3043e-08 ExAC_pLI : 7.5810e-05 HI : . TS : . DDD_HI_percent : 24.32 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.00668502880108233 ExAC_misZ : 0.276227551456514 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51535 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : XM_017019434 Tx_version : 2 Tx_start : 42326166 Tx_end : 42448621 Exon_count : 13 Overlapped_tx_length : 122455 Overlapped_CDS_length : 1524 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42326166 Intersect_end : 42448621 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TUBA1CGene_name : TUBA1C; LOEUF_bin : 4 GnomAD_pLI : 7.4331e-03 ExAC_pLI : 8.4015e-01 HI : . TS : . DDD_HI_percent : 25.79 ACMG : . ExAC_cnvZ : 0.341770013363577 ExAC_delZ : -0.228667744109485 ExAC_dupZ : 0.659045220943218 ExAC_synZ : 1.36960451891922 ExAC_misZ : 4.16615037655272 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84790 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001303114 Tx_version : 1 Tx_start : 49227925 Tx_end : 49273338 Exon_count : 4 Overlapped_tx_length : 45413 Overlapped_CDS_length : 1560 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49227925 Intersect_end : 49273338 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
C12orf50Gene_name : C12orf50; LOEUF_bin : 4 GnomAD_pLI : 4.7252e-07 ExAC_pLI : 1.5445e-04 HI : . TS : . DDD_HI_percent : 30.09 ACMG : . ExAC_cnvZ : 0.053709385114034 ExAC_delZ : 0.328421384676411 ExAC_dupZ : -0.150520574069433 ExAC_synZ : -0.731458485483864 ExAC_misZ : -1.13161252431778 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 160419 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : 5'UTR-3'UTR Tx : XM_017018887 Tx_version : 2 Tx_start : 87980034 Tx_end : 88029401 Exon_count : 13 Overlapped_tx_length : 49367 Overlapped_CDS_length : 1407 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 87980034 Intersect_end : 88029401 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CPMGene_name : CPM; LOEUF_bin : 4 GnomAD_pLI : 1.6604e-05 ExAC_pLI : 8.0712e-07 HI : . TS : . DDD_HI_percent : 62.26 ACMG : . ExAC_cnvZ : -0.475500395625929 ExAC_delZ : 0.834868061365599 ExAC_dupZ : -0.998055856547322 ExAC_synZ : -0.162793929493817 ExAC_misZ : 1.7847712799343 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1368 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_001413387 Tx_version : 1 Tx_start : 68851174 Tx_end : 68933171 Exon_count : 9 Overlapped_tx_length : 81997 Overlapped_CDS_length : 1368 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68851174 Intersect_end : 68933171 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LALBAGene_name : LALBA; LOEUF_bin : 4 GnomAD_pLI : 4.6030e-01 ExAC_pLI : 3.9595e-01 HI : . TS : . DDD_HI_percent : 79.41 ACMG : . ExAC_cnvZ : 0.616256352359316 ExAC_delZ : 0.466171279587857 ExAC_dupZ : 0.434572122464248 ExAC_synZ : 0.338923024315309 ExAC_misZ : 0.735417755477938 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3906 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001384350 Tx_version : 1 Tx_start : 48567683 Tx_end : 48571845 Exon_count : 5 Overlapped_tx_length : 4162 Overlapped_CDS_length : 429 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48567683 Intersect_end : 48571845 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:48564877-48573109 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ARHGAP9Gene_name : ARHGAP9; LOEUF_bin : 4 GnomAD_pLI : 3.9385e-11 ExAC_pLI : 2.8913e-09 HI : . TS : . DDD_HI_percent : 63.22 ACMG : . ExAC_cnvZ : 0.00855970446923829 ExAC_delZ : -0.226707262050756 ExAC_dupZ : 0.129194970683592 ExAC_synZ : 0.987264025653942 ExAC_misZ : 0.584098079198897 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64333 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_047429329 Tx_version : 1 Tx_start : 57472268 Tx_end : 57488824 Exon_count : 20 Overlapped_tx_length : 16556 Overlapped_CDS_length : 2397 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57472268 Intersect_end : 57488824 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GTSF1Gene_name : GTSF1; LOEUF_bin : 4 GnomAD_pLI : 2.2144e-02 ExAC_pLI : 5.1338e-01 HI : . TS : . DDD_HI_percent : 5.22 ACMG : . ExAC_cnvZ : 0.814386337647642 ExAC_delZ : 0.67089407016841 ExAC_dupZ : 0.593608951468359 ExAC_synZ : -0.116507624151109 ExAC_misZ : 0.270206324330587 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121355 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_144594 Tx_version : 3 Tx_start : 54455956 Tx_end : 54473602 Exon_count : 9 Overlapped_tx_length : 17646 Overlapped_CDS_length : 504 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54455956 Intersect_end : 54473602 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ARHGEF25Gene_name : ARHGEF25; LOEUF_bin : 4 GnomAD_pLI : 2.9481e-10 ExAC_pLI : 5.1761e-06 HI : . TS : . DDD_HI_percent : 49.98 ACMG : . ExAC_cnvZ : 0.470837048751868 ExAC_delZ : 0.829212669731852 ExAC_dupZ : 0.161903601962656 ExAC_synZ : 0.276863699997032 ExAC_misZ : 0.483794310029637 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 115557 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001111270 Tx_version : 3 Tx_start : 57610115 Tx_end : 57617245 Exon_count : 16 Overlapped_tx_length : 7130 Overlapped_CDS_length : 1860 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57610115 Intersect_end : 57617245 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C1Gene_name : OR6C1; LOEUF_bin : 4 GnomAD_pLI : 5.0471e-01 ExAC_pLI : 1.2386e-02 HI : . TS : . DDD_HI_percent : 76.52 ACMG : . ExAC_cnvZ : -0.681680350743171 ExAC_delZ : 0.394047108259866 ExAC_dupZ : -1.08359176080927 ExAC_synZ : -1.79732563011627 ExAC_misZ : -1.76037465073451 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 390321 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005182 Tx_version : 2 Tx_start : 55314342 Tx_end : 55322364 Exon_count : 2 Overlapped_tx_length : 8022 Overlapped_CDS_length : 939 Overlapped_CDS_percent : 53 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55314342 Intersect_end : 55322364 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:55310583-55331520; chr12:55310668-55331605 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GLTPGene_name : GLTP; LOEUF_bin : 4 GnomAD_pLI : 1.1475e-01 ExAC_pLI : 2.2709e-01 HI : . TS : . DDD_HI_percent : 35.68 ACMG : . ExAC_cnvZ : 1.06559169067742 ExAC_delZ : 0.710003477108215 ExAC_dupZ : 1.03433924956729 ExAC_synZ : 1.19036047546647 ExAC_misZ : 1.08739446501664 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51228 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_016433 Tx_version : 4 Tx_start : 109850944 Tx_end : 109880541 Exon_count : 5 Overlapped_tx_length : 29597 Overlapped_CDS_length : 630 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109850944 Intersect_end : 109880541 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NT5DC3Gene_name : NT5DC3; LOEUF_bin : 4 GnomAD_pLI : 1.4702e-07 ExAC_pLI : 1.1240e-04 HI : . TS : . DDD_HI_percent : 51.45 ACMG : . ExAC_cnvZ : 0.158259683639939 ExAC_delZ : 0.15363444741603 ExAC_dupZ : 0.0890060429788458 ExAC_synZ : 0.542963080694703 ExAC_misZ : 1.8139013456984 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51559 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001031701 Tx_version : 3 Tx_start : 103772309 Tx_end : 103841234 Exon_count : 14 Overlapped_tx_length : 68925 Overlapped_CDS_length : 1647 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103772309 Intersect_end : 103841234 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MFSD5Gene_name : MFSD5; LOEUF_bin : 4 GnomAD_pLI : 2.3254e-03 ExAC_pLI : 1.0247e-01 HI : . TS : . DDD_HI_percent : 60.3 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -1.34562993965521 ExAC_misZ : 0.788895789288349 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84975 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_005269197 Tx_version : 2 Tx_start : 53251196 Tx_end : 53254406 Exon_count : 3 Overlapped_tx_length : 3210 Overlapped_CDS_length : 1674 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53251196 Intersect_end : 53254406 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ANAPC5Gene_name : ANAPC5; LOEUF_bin : 4 GnomAD_pLI : 1.6499e-09 ExAC_pLI : 4.1800e-05 HI : . TS : . DDD_HI_percent : 12.09 ACMG : . ExAC_cnvZ : 0.159969077811714 ExAC_delZ : -0.0507912867679343 ExAC_dupZ : 0.220275633167086 ExAC_synZ : 1.08501349879947 ExAC_misZ : 3.0596684709515 GenCC_disease : schizophrenia GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : 28195569 NCBI_gene_ID : 51433 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_016237 Tx_version : 5 Tx_start : 121308244 Tx_end : 121352411 Exon_count : 17 Overlapped_tx_length : 44167 Overlapped_CDS_length : 2268 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121308244 Intersect_end : 121352411 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ACACBGene_name : ACACB; LOEUF_bin : 4 GnomAD_pLI : 7.6499e-47 ExAC_pLI : 5.1243e-22 HI : . TS : . DDD_HI_percent : 49.54 ACMG : . ExAC_cnvZ : -0.863726993954156 ExAC_delZ : 1.96709057490021 ExAC_dupZ : -1.76075206069861 ExAC_synZ : 0.677907740598294 ExAC_misZ : 1.33897157870072 GenCC_disease : isolated cleft palate GenCC_moi : . GenCC_classification : Limited GenCC_pmid : 28767323 NCBI_gene_ID : 32 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001412734 Tx_version : 1 Tx_start : 109111188 Tx_end : 109268226 Exon_count : 54 Overlapped_tx_length : 157038 Overlapped_CDS_length : 7377 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109111188 Intersect_end : 109268226 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GALNT6Gene_name : GALNT6; LOEUF_bin : 4 GnomAD_pLI : 1.4162e-09 ExAC_pLI : 1.6584e-06 HI : . TS : . DDD_HI_percent : 59.9 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.431884881068468 ExAC_misZ : 0.577862129932789 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11226 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_005268607 Tx_version : 2 Tx_start : 51351251 Tx_end : 51391673 Exon_count : 12 Overlapped_tx_length : 40422 Overlapped_CDS_length : 1869 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51351251 Intersect_end : 51391673 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LIMA1Gene_name : LIMA1; LOEUF_bin : 4 GnomAD_pLI : 2.7465e-10 ExAC_pLI : 1.2836e-07 HI : . TS : . DDD_HI_percent : 55.38 ACMG : . ExAC_cnvZ : 1.2537671961937 ExAC_delZ : 0.902769984038571 ExAC_dupZ : 1.19924738109655 ExAC_synZ : -1.05173870461276 ExAC_misZ : 0.550143547770295 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51474 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001113546 Tx_version : 2 Tx_start : 50175787 Tx_end : 50283520 Exon_count : 11 Overlapped_tx_length : 107733 Overlapped_CDS_length : 2283 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50175787 Intersect_end : 50283520 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PUS7LGene_name : PUS7L; LOEUF_bin : 4 GnomAD_pLI : 2.5859e-06 ExAC_pLI : 1.5698e-06 HI : . TS : . DDD_HI_percent : 68.51 ACMG : . ExAC_cnvZ : -0.109599052706083 ExAC_delZ : -0.68383962625906 ExAC_dupZ : 0.236953767452989 ExAC_synZ : -0.372734806503004 ExAC_misZ : -1.80519040296255 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 83448 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : XM_011538790 Tx_version : 4 Tx_start : 43718991 Tx_end : 43758790 Exon_count : 9 Overlapped_tx_length : 39799 Overlapped_CDS_length : 2133 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 43718991 Intersect_end : 43758790 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RAB5BGene_name : RAB5B; LOEUF_bin : 4 GnomAD_pLI : 2.6434e-02 ExAC_pLI : 2.1570e-01 HI : . TS : . DDD_HI_percent : 17.76 ACMG : . ExAC_cnvZ : 0.993714958794849 ExAC_delZ : 0.528651415350498 ExAC_dupZ : 0.865243047724575 ExAC_synZ : -0.866323043629077 ExAC_misZ : 1.55186500145649 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5869 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001414458 Tx_version : 1 Tx_start : 55974077 Tx_end : 55996683 Exon_count : 7 Overlapped_tx_length : 22606 Overlapped_CDS_length : 891 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55974077 Intersect_end : 55996683 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RBMS2Gene_name : RBMS2; LOEUF_bin : 4 GnomAD_pLI : 1.3611e-06 ExAC_pLI : 2.9148e-03 HI : . TS : . DDD_HI_percent : 35.79 ACMG : . ExAC_cnvZ : 0.881104746184817 ExAC_delZ : 0.0281316891025088 ExAC_dupZ : 1.25521739225994 ExAC_synZ : 0.159066282160918 ExAC_misZ : 1.06331607608678 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5939 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : XM_006719541 Tx_version : 5 Tx_start : 56521819 Tx_end : 56595600 Exon_count : 14 Overlapped_tx_length : 73781 Overlapped_CDS_length : 1434 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56521819 Intersect_end : 56595600 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TROAPGene_name : TROAP; LOEUF_bin : 4 GnomAD_pLI : 3.5061e-11 ExAC_pLI : 3.0201e-07 HI : . TS : . DDD_HI_percent : 66.6 ACMG : . ExAC_cnvZ : 1.25948380117261 ExAC_delZ : 1.41870335903185 ExAC_dupZ : 0.908789885052148 ExAC_synZ : 0.253972074562424 ExAC_misZ : 0.110165238646731 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10024 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001410976 Tx_version : 1 Tx_start : 49323254 Tx_end : 49331731 Exon_count : 14 Overlapped_tx_length : 8477 Overlapped_CDS_length : 2607 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49323254 Intersect_end : 49331731 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZCRB1Gene_name : ZCRB1; LOEUF_bin : 4 GnomAD_pLI : 3.5488e-03 ExAC_pLI : 9.5394e-04 HI : . TS : . DDD_HI_percent : 19.23 ACMG : . ExAC_cnvZ : 0.827382325983536 ExAC_delZ : 0.174356345646072 ExAC_dupZ : 0.957530995828938 ExAC_synZ : -0.708161440410997 ExAC_misZ : 0.717502943461744 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 85437 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_033114 Tx_version : 4 Tx_start : 42312085 Tx_end : 42326094 Exon_count : 8 Overlapped_tx_length : 14009 Overlapped_CDS_length : 654 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42312085 Intersect_end : 42326094 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DDX55Gene_name : DDX55; LOEUF_bin : 4 GnomAD_pLI : 2.1088e-08 ExAC_pLI : 6.0082e-06 HI : . TS : . DDD_HI_percent : 44.62 ACMG : . ExAC_cnvZ : 0.340939321847014 ExAC_delZ : -0.0708911242156945 ExAC_dupZ : 0.500166540666285 ExAC_synZ : 0.969930553370998 ExAC_misZ : 0.143826262231845 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57696 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_017019710 Tx_version : 2 Tx_start : 123602098 Tx_end : 123620581 Exon_count : 14 Overlapped_tx_length : 18483 Overlapped_CDS_length : 1857 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123602098 Intersect_end : 123620581 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
VSIG10Gene_name : VSIG10; LOEUF_bin : 4 GnomAD_pLI : 3.4841e-06 ExAC_pLI : 5.5475e-07 HI : . TS : . DDD_HI_percent : 72.52 ACMG : . ExAC_cnvZ : -0.595293488123118 ExAC_delZ : -0.563641730617074 ExAC_dupZ : -0.585155906508779 ExAC_synZ : -0.0953227727231076 ExAC_misZ : 0.299314658623957 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 54621 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_019086 Tx_version : 6 Tx_start : 118063592 Tx_end : 118104011 Exon_count : 9 Overlapped_tx_length : 40419 Overlapped_CDS_length : 1623 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118063592 Intersect_end : 118104011 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SYT10Gene_name : SYT10; LOEUF_bin : 4 GnomAD_pLI : 6.2437e-05 ExAC_pLI : 1.2325e-01 HI : . TS : . DDD_HI_percent : 61.15 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -1.22635894910544 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 1.09242622494928 ExAC_misZ : -0.104423353508644 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 341359 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.1 Location2 : 5'UTR-3'UTR Tx : NM_198992 Tx_version : 4 Tx_start : 33374237 Tx_end : 33439819 Exon_count : 7 Overlapped_tx_length : 65582 Overlapped_CDS_length : 1572 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 33374237 Intersect_end : 33439819 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
esv2761043B_loss_source : esv2761043 B_loss_coord : 12:33141565-34701563 B_loss_AFmax : 0.0400 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM19Gene_name : TMEM19; LOEUF_bin : 4 GnomAD_pLI : 5.2014e-03 ExAC_pLI : 1.3807e-03 HI : . TS : . DDD_HI_percent : 44.97 ACMG : . ExAC_cnvZ : 0.952866267550727 ExAC_delZ : 0.606299819718425 ExAC_dupZ : 0.907205501745359 ExAC_synZ : -0.142982714019832 ExAC_misZ : -0.5930552925537 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55266 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_018279 Tx_version : 4 Tx_start : 71686081 Tx_end : 71705047 Exon_count : 6 Overlapped_tx_length : 18966 Overlapped_CDS_length : 1011 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71686081 Intersect_end : 71705047 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CDK2AP1Gene_name : CDK2AP1; LOEUF_bin : 4 GnomAD_pLI : 4.4839e-01 ExAC_pLI : 7.4236e-01 HI : . TS : . DDD_HI_percent : 40.73 ACMG : . ExAC_cnvZ : 0.282444782708882 ExAC_delZ : 1.29773460843339 ExAC_dupZ : -0.22987954671288 ExAC_synZ : 1.09592129179511 ExAC_misZ : 1.86826608175126 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8099 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_004642 Tx_version : 4 Tx_start : 123260975 Tx_end : 123271856 Exon_count : 4 Overlapped_tx_length : 10881 Overlapped_CDS_length : 348 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123260975 Intersect_end : 123271856 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LRRC10Gene_name : LRRC10; LOEUF_bin : 4 GnomAD_pLI : 4.3469e-01 ExAC_pLI : 9.1918e-03 HI : . TS : . DDD_HI_percent : 47.25 ACMG : . ExAC_cnvZ : 0.0925032477153793 ExAC_delZ : 0.00756576559832823 ExAC_dupZ : 0.0147293717976368 ExAC_synZ : -0.728830588246187 ExAC_misZ : 0.177866648506802 GenCC_disease : dilated cardiomyopathy GenCC_moi : AR GenCC_classification : No Known Disease Relationship GenCC_pmid : . NCBI_gene_ID : 376132 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_201550 Tx_version : 4 Tx_start : 69608563 Tx_end : 69610907 Exon_count : 1 Overlapped_tx_length : 2344 Overlapped_CDS_length : 834 Overlapped_CDS_percent : 92 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69608563 Intersect_end : 69610907 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BRI3BPGene_name : BRI3BP; LOEUF_bin : 5 GnomAD_pLI : 6.4384e-02 ExAC_pLI : 1.2513e-01 HI : . TS : . DDD_HI_percent : 66.05 ACMG : . ExAC_cnvZ : 0.766127499250527 ExAC_delZ : 0.452723166854394 ExAC_dupZ : 0.838928827418661 ExAC_synZ : 0.824549203499912 ExAC_misZ : 2.2811869829596 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140707 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_080626 Tx_version : 6 Tx_start : 124993644 Tx_end : 125031231 Exon_count : 3 Overlapped_tx_length : 37587 Overlapped_CDS_length : 756 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124993644 Intersect_end : 125031231 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ARL6IP4Gene_name : ARL6IP4; LOEUF_bin : 5 GnomAD_pLI : 9.0784e-04 ExAC_pLI : 1.1234e-02 HI : . TS : . DDD_HI_percent : 56.14 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.263087848341006 ExAC_misZ : -0.785321215747339 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51329 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001400282 Tx_version : 1 Tx_start : 122980232 Tx_end : 122982909 Exon_count : 6 Overlapped_tx_length : 2677 Overlapped_CDS_length : 714 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122980232 Intersect_end : 122982909 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FICDGene_name : FICD; LOEUF_bin : 5 GnomAD_pLI : 1.0193e-02 ExAC_pLI : 6.3858e-03 HI : . TS : . DDD_HI_percent : 62.6 ACMG : . ExAC_cnvZ : 0.528166708740673 ExAC_delZ : 0.0699316520459918 ExAC_dupZ : 0.502712507738323 ExAC_synZ : 0.188988756004612 ExAC_misZ : 0.608988591699241 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11153 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_007076 Tx_version : 3 Tx_start : 108515276 Tx_end : 108521210 Exon_count : 3 Overlapped_tx_length : 5934 Overlapped_CDS_length : 1377 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108515276 Intersect_end : 108521210 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCDC60Gene_name : CCDC60; LOEUF_bin : 5 GnomAD_pLI : 7.7084e-10 ExAC_pLI : 8.6207e-06 HI : . TS : . DDD_HI_percent : 84.82 ACMG : . ExAC_cnvZ : 0.268566254201624 ExAC_delZ : 1.2751319633123 ExAC_dupZ : -0.257808980948121 ExAC_synZ : 1.6839714223429 ExAC_misZ : -1.26226464387304 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 160777 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : NM_178499 Tx_version : 5 Tx_start : 119334728 Tx_end : 119541040 Exon_count : 14 Overlapped_tx_length : 206312 Overlapped_CDS_length : 1653 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119334728 Intersect_end : 119541040 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IGFBP6Gene_name : IGFBP6; LOEUF_bin : 5 GnomAD_pLI : 2.9150e-02 ExAC_pLI : 9.2331e-02 HI : . TS : . DDD_HI_percent : 58.4 ACMG : . ExAC_cnvZ : -0.053314543772366 ExAC_delZ : -0.461937712161224 ExAC_dupZ : 0.177523604263109 ExAC_synZ : -0.274019347520509 ExAC_misZ : 0.768860241856451 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3489 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_002178 Tx_version : 3 Tx_start : 53097666 Tx_end : 53102340 Exon_count : 4 Overlapped_tx_length : 4674 Overlapped_CDS_length : 723 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53097666 Intersect_end : 53102340 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LLPHGene_name : LLPH; LOEUF_bin : 5 GnomAD_pLI : 3.4929e-01 ExAC_pLI : 3.4145e-01 HI : . TS : . DDD_HI_percent : 62.63 ACMG : . ExAC_cnvZ : -1.08650483074721 ExAC_delZ : -1.52843173661213 ExAC_dupZ : -0.821272650537683 ExAC_synZ : 0.379579179450534 ExAC_misZ : 0.370426739954768 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84298 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : NM_032338 Tx_version : 4 Tx_start : 66116554 Tx_end : 66130750 Exon_count : 3 Overlapped_tx_length : 14196 Overlapped_CDS_length : 390 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66116554 Intersect_end : 66130750 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RASAL1Gene_name : RASAL1; LOEUF_bin : 5 GnomAD_pLI : 1.2135e-14 ExAC_pLI : 4.8598e-08 HI : . TS : . DDD_HI_percent : 57.99 ACMG : . ExAC_cnvZ : -0.110659373303076 ExAC_delZ : 0.178297685144299 ExAC_dupZ : -0.274371777821267 ExAC_synZ : 1.2357048570787 ExAC_misZ : 1.32236641608685 GenCC_disease : breast cancer GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 8437 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : XM_047429676 Tx_version : 1 Tx_start : 113099277 Tx_end : 113136756 Exon_count : 22 Overlapped_tx_length : 37479 Overlapped_CDS_length : 2421 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113099277 Intersect_end : 113136756 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LRRIQ1Gene_name : LRRIQ1; LOEUF_bin : 5 GnomAD_pLI : 5.5161e-37 ExAC_pLI : 6.8499e-19 HI : . TS : . DDD_HI_percent : 62.61 ACMG : . ExAC_cnvZ : -0.136415799795902 ExAC_delZ : -0.767302322896016 ExAC_dupZ : 0.211770139609215 ExAC_synZ : -0.626340189819707 ExAC_misZ : -3.96326659179353 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84125 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : XM_011538817 Tx_version : 3 Tx_start : 85036350 Tx_end : 85264457 Exon_count : 28 Overlapped_tx_length : 228107 Overlapped_CDS_length : 5283 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 85036350 Intersect_end : 85264457 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PWP1Gene_name : PWP1; LOEUF_bin : 5 GnomAD_pLI : 1.9862e-12 ExAC_pLI : 1.8550e-05 HI : . TS : . DDD_HI_percent : 49.07 ACMG : . ExAC_cnvZ : 0.663894385459953 ExAC_delZ : 0.0564058221744736 ExAC_dupZ : 0.89072732053643 ExAC_synZ : -0.436792635969668 ExAC_misZ : 1.28465833632211 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11137 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_007062 Tx_version : 3 Tx_start : 107685798 Tx_end : 107713162 Exon_count : 15 Overlapped_tx_length : 27364 Overlapped_CDS_length : 1506 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107685798 Intersect_end : 107713162 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AGAP2-AS1Gene_name : AGAP2-AS1; LOEUF_bin : 5 GnomAD_pLI : 2.7534e-02 ExAC_pLI : 4.2345e-02 HI : . TS : . DDD_HI_percent : 64.39 ACMG : . ExAC_cnvZ : -0.520886843393399 ExAC_delZ : 0.272466660930063 ExAC_dupZ : -0.828861368919104 ExAC_synZ : 2.24075681053474 ExAC_misZ : 2.75312179406397 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100130776 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_027032 Tx_version : 1 Tx_start : 57726239 Tx_end : 57728356 Exon_count : 2 Overlapped_tx_length : 2117 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57726239 Intersect_end : 57728356 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCDC38Gene_name : CCDC38; LOEUF_bin : 5 GnomAD_pLI : 1.8346e-13 ExAC_pLI : 1.5668e-08 HI : . TS : . DDD_HI_percent : 84.96 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -1.18195040603951 ExAC_misZ : -1.05897634634952 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 120935 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : XM_011537883 Tx_version : 3 Tx_start : 95867047 Tx_end : 95943233 Exon_count : 16 Overlapped_tx_length : 76186 Overlapped_CDS_length : 1692 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95867047 Intersect_end : 95943233 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ACSS3Gene_name : ACSS3; LOEUF_bin : 5 GnomAD_pLI : 5.0483e-13 ExAC_pLI : 2.9994e-11 HI : . TS : . DDD_HI_percent : 28.03 ACMG : . ExAC_cnvZ : 0.585506740832975 ExAC_delZ : -0.0030279362550686 ExAC_dupZ : 0.822164797091621 ExAC_synZ : 0.531674586004126 ExAC_misZ : 0.544144549939713 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79611 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_024560 Tx_version : 4 Tx_start : 81078078 Tx_end : 81261210 Exon_count : 16 Overlapped_tx_length : 183132 Overlapped_CDS_length : 2061 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 81078078 Intersect_end : 81261210 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CELA1Gene_name : CELA1; LOEUF_bin : 5 GnomAD_pLI : 2.3937e-04 ExAC_pLI : 1.2995e-01 HI : . TS : . DDD_HI_percent : 59.6 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.712613696190336 ExAC_misZ : -0.355795795876138 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1990 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001971 Tx_version : 6 Tx_start : 51328441 Tx_end : 51346679 Exon_count : 8 Overlapped_tx_length : 18238 Overlapped_CDS_length : 777 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51328441 Intersect_end : 51346679 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPP1R1AGene_name : PPP1R1A; LOEUF_bin : 5 GnomAD_pLI : 2.1894e-02 ExAC_pLI : 8.5761e-03 HI : . TS : . DDD_HI_percent : 52.28 ACMG : . ExAC_cnvZ : -0.164160127291463 ExAC_delZ : -0.438588274273136 ExAC_dupZ : -0.0172269000810964 ExAC_synZ : -1.21642581405182 ExAC_misZ : 0.709680905106817 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5502 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_006741 Tx_version : 4 Tx_start : 54579245 Tx_end : 54588659 Exon_count : 7 Overlapped_tx_length : 9414 Overlapped_CDS_length : 516 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54579245 Intersect_end : 54588659 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GTF2H3Gene_name : GTF2H3; LOEUF_bin : 5 GnomAD_pLI : 3.0414e-08 ExAC_pLI : 1.5917e-05 HI : . TS : . DDD_HI_percent : 51 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.29707137969674 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.146914679068178 ExAC_misZ : -0.109498479796001 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 2967 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001516 Tx_version : 5 Tx_start : 123633828 Tx_end : 123662604 Exon_count : 13 Overlapped_tx_length : 28776 Overlapped_CDS_length : 927 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123633828 Intersect_end : 123662604 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RAPGEF3Gene_name : RAPGEF3; LOEUF_bin : 5 GnomAD_pLI : 7.0737e-23 ExAC_pLI : 2.0974e-15 HI : . TS : . DDD_HI_percent : 42.68 ACMG : . ExAC_cnvZ : 0.778577474241901 ExAC_delZ : 0.141478820773136 ExAC_dupZ : 1.04496464973662 ExAC_synZ : -0.445537533701592 ExAC_misZ : 0.420784205127508 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10411 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_011537752 Tx_version : 3 Tx_start : 47734362 Tx_end : 47758880 Exon_count : 28 Overlapped_tx_length : 24518 Overlapped_CDS_length : 2817 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47734362 Intersect_end : 47758880 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BIN2Gene_name : BIN2; LOEUF_bin : 5 GnomAD_pLI : 4.5252e-11 ExAC_pLI : 2.0994e-04 HI : . TS : . DDD_HI_percent : 72.5 ACMG : . ExAC_cnvZ : 0.769766029860177 ExAC_delZ : -0.169999482529037 ExAC_dupZ : 1.3491424055783 ExAC_synZ : 0.556365377509539 ExAC_misZ : 0.581419404960526 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51411 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_016293 Tx_version : 4 Tx_start : 51281037 Tx_end : 51324174 Exon_count : 13 Overlapped_tx_length : 43137 Overlapped_CDS_length : 1698 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51281037 Intersect_end : 51324174 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
USP44Gene_name : USP44; LOEUF_bin : 5 GnomAD_pLI : 9.8051e-15 ExAC_pLI : 1.4612e-09 HI : . TS : . DDD_HI_percent : 37.97 ACMG : . ExAC_cnvZ : 1.0289823031015 ExAC_delZ : 0.944882796623116 ExAC_dupZ : 0.776000966791375 ExAC_synZ : 0.764983869617868 ExAC_misZ : 0.245592803010398 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84101 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : XM_011538803 Tx_version : 1 Tx_start : 95516559 Tx_end : 95551529 Exon_count : 7 Overlapped_tx_length : 34970 Overlapped_CDS_length : 2232 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95516559 Intersect_end : 95551529 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LMBR1LGene_name : LMBR1L; LOEUF_bin : 5 GnomAD_pLI : 6.6140e-13 ExAC_pLI : 2.1832e-06 HI : . TS : . DDD_HI_percent : 15.04 ACMG : . ExAC_cnvZ : 0.294243884257305 ExAC_delZ : 0.0282204498865386 ExAC_dupZ : 0.399052617291479 ExAC_synZ : -0.268008362851956 ExAC_misZ : 0.983897218575922 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55716 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001352161 Tx_version : 2 Tx_start : 49097138 Tx_end : 49110847 Exon_count : 17 Overlapped_tx_length : 13709 Overlapped_CDS_length : 1491 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49097138 Intersect_end : 49110847 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
METTL1Gene_name : METTL1; LOEUF_bin : 5 GnomAD_pLI : 1.9620e-03 ExAC_pLI : 5.9156e-03 HI : . TS : . DDD_HI_percent : 15.23 ACMG : . ExAC_cnvZ : -0.783299864540504 ExAC_delZ : -1.2942422909387 ExAC_dupZ : -0.388984284367486 ExAC_synZ : 0.397498226106554 ExAC_misZ : 0.513950411789968 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4234 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_005371 Tx_version : 6 Tx_start : 57768470 Tx_end : 57772105 Exon_count : 6 Overlapped_tx_length : 3635 Overlapped_CDS_length : 831 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57768470 Intersect_end : 57772105 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ALDH1L2Gene_name : ALDH1L2; LOEUF_bin : 5 GnomAD_pLI : 1.7337e-17 ExAC_pLI : 3.5001e-11 HI : . TS : . DDD_HI_percent : 42.19 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.41451683695592 ExAC_synZ : -0.513952760693077 ExAC_misZ : 0.185983372711735 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 160428 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001034173 Tx_version : 4 Tx_start : 105019789 Tx_end : 105084458 Exon_count : 23 Overlapped_tx_length : 64669 Overlapped_CDS_length : 2772 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105019789 Intersect_end : 105084458 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ORMDL2Gene_name : ORMDL2; LOEUF_bin : 5 GnomAD_pLI : 1.9417e-01 ExAC_pLI : 1.5087e-01 HI : . TS : . DDD_HI_percent : 20.35 ACMG : . ExAC_cnvZ : 0.670595662106331 ExAC_delZ : 0.78983808547815 ExAC_dupZ : 0.467447400422107 ExAC_synZ : -0.442941616765871 ExAC_misZ : 0.42474506222596 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 29095 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_014182 Tx_version : 5 Tx_start : 55818040 Tx_end : 55821879 Exon_count : 4 Overlapped_tx_length : 3839 Overlapped_CDS_length : 462 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55818040 Intersect_end : 55821879 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCER1Gene_name : CCER1; LOEUF_bin : 5 GnomAD_pLI : 4.1961e-05 ExAC_pLI : 4.8473e-07 HI : . TS : . DDD_HI_percent : 84.57 ACMG : . ExAC_cnvZ : 0.250807876114444 ExAC_delZ : 0.527749090696893 ExAC_dupZ : 0.00934045229469327 ExAC_synZ : 2.32867950187269 ExAC_misZ : 0.617720213303356 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 196477 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : 5'UTR-3'UTR Tx : NM_152638 Tx_version : 4 Tx_start : 90952214 Tx_end : 90955176 Exon_count : 1 Overlapped_tx_length : 2962 Overlapped_CDS_length : 1221 Overlapped_CDS_percent : 73 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 90952214 Intersect_end : 90955176 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC15A4Gene_name : SLC15A4; LOEUF_bin : 5 GnomAD_pLI : 1.9296e-06 ExAC_pLI : 2.9944e-09 HI : . TS : . DDD_HI_percent : 75.21 ACMG : . ExAC_cnvZ : -0.332233871236011 ExAC_delZ : 0.275510969251864 ExAC_dupZ : -0.617783714921849 ExAC_synZ : 1.36655103944573 ExAC_misZ : 2.28366756729752 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121260 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : XM_011537895 Tx_version : 2 Tx_start : 128793193 Tx_end : 128823958 Exon_count : 8 Overlapped_tx_length : 30765 Overlapped_CDS_length : 1884 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128793193 Intersect_end : 128823958 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GPN3Gene_name : GPN3; LOEUF_bin : 5 GnomAD_pLI : 2.9029e-07 ExAC_pLI : 1.0047e-04 HI : . TS : . DDD_HI_percent : 10.15 ACMG : . ExAC_cnvZ : -0.297301252101318 ExAC_delZ : -0.332811881135887 ExAC_dupZ : -0.274628410728901 ExAC_synZ : 0.247738062563009 ExAC_misZ : 0.411407060657385 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51184 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_047428933 Tx_version : 1 Tx_start : 110452485 Tx_end : 110468721 Exon_count : 9 Overlapped_tx_length : 16236 Overlapped_CDS_length : 1092 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110452485 Intersect_end : 110468721 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT8Gene_name : KRT8; LOEUF_bin : 5 GnomAD_pLI : 2.3600e-08 ExAC_pLI : 5.6144e-06 HI : . TS : . DDD_HI_percent : 13.83 ACMG : . ExAC_cnvZ : 0.650380371170755 ExAC_delZ : 0.504618055807649 ExAC_dupZ : 0.480084184632922 ExAC_synZ : 0.473749301791349 ExAC_misZ : 2.15133530373941 GenCC_disease : cirrhosis, familial GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : 11372009; 22419260; 30134826 NCBI_gene_ID : 3856 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001256282 Tx_version : 2 Tx_start : 52897190 Tx_end : 52926469 Exon_count : 9 Overlapped_tx_length : 29279 Overlapped_CDS_length : 1536 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52897190 Intersect_end : 52926469 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMCC3Gene_name : TMCC3; LOEUF_bin : 5 GnomAD_pLI : 2.7391e-05 ExAC_pLI : 3.9218e-04 HI : . TS : . DDD_HI_percent : 45.07 ACMG : . ExAC_cnvZ : 1.20592112758663 ExAC_delZ : 0.796172285565956 ExAC_dupZ : 1.05657746627198 ExAC_synZ : 0.129279207955062 ExAC_misZ : 0.852445951544226 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57458 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_020698 Tx_version : 4 Tx_start : 94567121 Tx_end : 94650557 Exon_count : 4 Overlapped_tx_length : 83436 Overlapped_CDS_length : 1434 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94567121 Intersect_end : 94650557 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PLBD2Gene_name : PLBD2; LOEUF_bin : 5 GnomAD_pLI : 1.7226e-11 ExAC_pLI : 7.1847e-08 HI : . TS : . DDD_HI_percent : 65.34 ACMG : . ExAC_cnvZ : -0.0116916994014417 ExAC_delZ : -0.634898151971267 ExAC_dupZ : 0.378675123353438 ExAC_synZ : 0.916842894355966 ExAC_misZ : 1.350046247972 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 196463 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_173542 Tx_version : 4 Tx_start : 113358586 Tx_end : 113391629 Exon_count : 12 Overlapped_tx_length : 33043 Overlapped_CDS_length : 1770 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113358586 Intersect_end : 113391629 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CSADGene_name : CSAD; LOEUF_bin : 5 GnomAD_pLI : 6.0781e-12 ExAC_pLI : 2.4797e-06 HI : . TS : . DDD_HI_percent : 53.63 ACMG : . ExAC_cnvZ : -0.206883861246839 ExAC_delZ : -0.670456886253683 ExAC_dupZ : 0.0953445479289426 ExAC_synZ : -0.22581811148098 ExAC_misZ : -0.204889933744361 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51380 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_047428958 Tx_version : 1 Tx_start : 53157662 Tx_end : 53180646 Exon_count : 18 Overlapped_tx_length : 22984 Overlapped_CDS_length : 1752 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53157662 Intersect_end : 53180646 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_173600 Tx_version : 2 Tx_start : 40393393 Tx_end : 40570757 Exon_count : 172 Overlapped_tx_length : 177364 Overlapped_CDS_length : 24561 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40393393 Intersect_end : 40570757 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FAM186BGene_name : FAM186B; LOEUF_bin : 6 GnomAD_pLI : 5.5062e-24 ExAC_pLI : 2.4002e-12 HI : . TS : . DDD_HI_percent : 81.93 ACMG : . ExAC_cnvZ : 0.868913464054097 ExAC_delZ : 0.741016481988203 ExAC_dupZ : 0.682096031737605 ExAC_synZ : 1.20477515742505 ExAC_misZ : -0.385097761690444 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84070 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_006719625 Tx_version : 3 Tx_start : 49582872 Tx_end : 49605639 Exon_count : 8 Overlapped_tx_length : 22767 Overlapped_CDS_length : 2682 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49582872 Intersect_end : 49605639 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ACTR6Gene_name : ACTR6; LOEUF_bin : 6 GnomAD_pLI : 5.4629e-09 ExAC_pLI : 4.6859e-03 HI : . TS : . DDD_HI_percent : 7.31 ACMG : . ExAC_cnvZ : -1.29851555326908 ExAC_delZ : -1.05674463217105 ExAC_dupZ : -1.46325235451934 ExAC_synZ : 0.871746671883234 ExAC_misZ : 1.68088713381223 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64431 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_022496 Tx_version : 5 Tx_start : 100200814 Tx_end : 100224424 Exon_count : 11 Overlapped_tx_length : 23610 Overlapped_CDS_length : 1191 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100200814 Intersect_end : 100224424 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HELBGene_name : HELB; LOEUF_bin : 6 GnomAD_pLI : 9.5899e-26 ExAC_pLI : 2.0169e-13 HI : . TS : . DDD_HI_percent : 83.4 ACMG : . ExAC_cnvZ : 0.536892225913615 ExAC_delZ : 0.940575932524884 ExAC_dupZ : 0.157889575226419 ExAC_synZ : 0.584073935979693 ExAC_misZ : 0.119988338978436 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 92797 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : NM_033647 Tx_version : 5 Tx_start : 66302492 Tx_end : 66343643 Exon_count : 14 Overlapped_tx_length : 41151 Overlapped_CDS_length : 3264 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66302492 Intersect_end : 66343643 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT84Gene_name : KRT84; LOEUF_bin : 6 GnomAD_pLI : 6.5597e-10 ExAC_pLI : 9.4328e-07 HI : . TS : . DDD_HI_percent : 67.7 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.885138756335552 ExAC_misZ : -1.91125564350318 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3890 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_011538335 Tx_version : 3 Tx_start : 52377811 Tx_end : 52386977 Exon_count : 10 Overlapped_tx_length : 9166 Overlapped_CDS_length : 1803 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52377811 Intersect_end : 52386977 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AMDHD1Gene_name : AMDHD1; LOEUF_bin : 6 GnomAD_pLI : 3.1269e-08 ExAC_pLI : 2.4695e-06 HI : . TS : . DDD_HI_percent : 18.57 ACMG : . ExAC_cnvZ : 1.15323729992935 ExAC_delZ : 0.700281815353159 ExAC_dupZ : 0.983337532797361 ExAC_synZ : 0.315123756300984 ExAC_misZ : -0.299449303531625 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144193 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_152435 Tx_version : 3 Tx_start : 95943330 Tx_end : 95968720 Exon_count : 9 Overlapped_tx_length : 25390 Overlapped_CDS_length : 1281 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95943330 Intersect_end : 95968720 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RASSF9Gene_name : RASSF9; LOEUF_bin : 6 GnomAD_pLI : 1.4029e-08 ExAC_pLI : 7.7040e-05 HI : . TS : . DDD_HI_percent : 57.77 ACMG : . ExAC_cnvZ : -0.498301084944678 ExAC_delZ : 0.360628067117396 ExAC_dupZ : -0.849828466671766 ExAC_synZ : -0.048224836495304 ExAC_misZ : -1.01596121760729 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9182 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_005447 Tx_version : 4 Tx_start : 85800702 Tx_end : 85836409 Exon_count : 2 Overlapped_tx_length : 35707 Overlapped_CDS_length : 1308 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 85800702 Intersect_end : 85836409 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC8B1Gene_name : SLC8B1; LOEUF_bin : 6 GnomAD_pLI : 2.0302e-16 ExAC_pLI : 5.4760e-10 HI : . TS : . DDD_HI_percent : 72.39 ACMG : . ExAC_cnvZ : 0.312245242714734 ExAC_delZ : -0.505769524029782 ExAC_dupZ : 0.809495477142874 ExAC_synZ : -0.610277262583013 ExAC_misZ : -0.0181621053085049 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80024 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001358345 Tx_version : 2 Tx_start : 113298770 Tx_end : 113335109 Exon_count : 16 Overlapped_tx_length : 36339 Overlapped_CDS_length : 1755 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113298770 Intersect_end : 113335109 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LRRC43Gene_name : LRRC43; LOEUF_bin : 6 GnomAD_pLI : 4.7157e-15 ExAC_pLI : 6.7034e-14 HI : . TS : . DDD_HI_percent : 87.66 ACMG : . ExAC_cnvZ : -1.15450910662672 ExAC_delZ : -2.5408529589222 ExAC_dupZ : -0.0180440021362282 ExAC_synZ : 0.23149240386636 ExAC_misZ : 0.69903024047017 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 254050 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_047428658 Tx_version : 1 Tx_start : 122183122 Tx_end : 122201930 Exon_count : 12 Overlapped_tx_length : 18808 Overlapped_CDS_length : 2067 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122183122 Intersect_end : 122201930 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR10P1Gene_name : OR10P1; LOEUF_bin : 6 GnomAD_pLI : 1.1405e-01 ExAC_pLI : 1.9235e-02 HI : . TS : . DDD_HI_percent : 83.63 ACMG : . ExAC_cnvZ : 0.809122266330953 ExAC_delZ : 0.451718854410392 ExAC_dupZ : 0.691040034850717 ExAC_synZ : -1.62288344206878 ExAC_misZ : -0.343526790980193 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121130 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_206899 Tx_version : 1 Tx_start : 55636891 Tx_end : 55637833 Exon_count : 1 Overlapped_tx_length : 942 Overlapped_CDS_length : 942 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55636891 Intersect_end : 55637833 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RILPL2Gene_name : RILPL2; LOEUF_bin : 6 GnomAD_pLI : 3.8900e-03 ExAC_pLI : 6.0872e-02 HI : . TS : . DDD_HI_percent : 63.26 ACMG : . ExAC_cnvZ : 0.0692822068643141 ExAC_delZ : 0.252529493897803 ExAC_dupZ : -0.0677363492984337 ExAC_synZ : -0.690290072997428 ExAC_misZ : 1.15755710708496 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 196383 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_047428476 Tx_version : 1 Tx_start : 123410678 Tx_end : 123436684 Exon_count : 4 Overlapped_tx_length : 26006 Overlapped_CDS_length : 684 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123410678 Intersect_end : 123436684 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MRPL42Gene_name : MRPL42; LOEUF_bin : 6 GnomAD_pLI : 3.9597e-02 ExAC_pLI : 2.7882e-02 HI : . TS : . DDD_HI_percent : 36.74 ACMG : . ExAC_cnvZ : 1.41854434711091 ExAC_delZ : 0.993345016246907 ExAC_dupZ : 1.21316360484147 ExAC_synZ : -0.568423582088697 ExAC_misZ : -0.203592200373667 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 28977 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : NM_014050 Tx_version : 4 Tx_start : 93467513 Tx_end : 93516214 Exon_count : 6 Overlapped_tx_length : 48701 Overlapped_CDS_length : 429 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93467513 Intersect_end : 93516214 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OAS2Gene_name : OAS2; LOEUF_bin : 6 GnomAD_pLI : 2.6050e-21 ExAC_pLI : 1.8909e-14 HI : . TS : . DDD_HI_percent : 93.17 ACMG : . ExAC_cnvZ : -1.78970011140236 ExAC_delZ : -0.238542906322352 ExAC_dupZ : -2.49748166887591 ExAC_synZ : -0.582818232842479 ExAC_misZ : 0.142466255657443 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4939 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_016817 Tx_version : 3 Tx_start : 112978518 Tx_end : 113011723 Exon_count : 11 Overlapped_tx_length : 33205 Overlapped_CDS_length : 2160 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112978518 Intersect_end : 113011723 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC11Gene_name : HOXC11; LOEUF_bin : 6 GnomAD_pLI : 4.0590e-03 ExAC_pLI : 7.8695e-02 HI : . TS : . DDD_HI_percent : 3.92 ACMG : . ExAC_cnvZ : 0.685383570536741 ExAC_delZ : 0.263759631656146 ExAC_dupZ : 0.61171872710646 ExAC_synZ : 2.95316738396607 ExAC_misZ : 2.44388024764904 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3227 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_014212 Tx_version : 4 Tx_start : 53973125 Tx_end : 53977643 Exon_count : 2 Overlapped_tx_length : 4518 Overlapped_CDS_length : 915 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53973125 Intersect_end : 53977643 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SMUG1Gene_name : SMUG1; LOEUF_bin : 6 GnomAD_pLI : 4.5154e-04 ExAC_pLI : 1.2301e-03 HI : . TS : . DDD_HI_percent : 28.72 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.603598845321318 ExAC_misZ : 0.520867475494186 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23583 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001243787 Tx_version : 2 Tx_start : 54180365 Tx_end : 54188985 Exon_count : 4 Overlapped_tx_length : 8620 Overlapped_CDS_length : 813 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54180365 Intersect_end : 54188985 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GAS2L3Gene_name : GAS2L3; LOEUF_bin : 6 GnomAD_pLI : 2.1234e-13 ExAC_pLI : 2.5859e-04 HI : . TS : . DDD_HI_percent : 61.9 ACMG : . ExAC_cnvZ : 0.5998078943951 ExAC_delZ : 0.772590006946802 ExAC_dupZ : 0.2895317102521 ExAC_synZ : -1.34124653889173 ExAC_misZ : -0.59852688904242 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283431 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001303130 Tx_version : 2 Tx_start : 100573683 Tx_end : 100628288 Exon_count : 9 Overlapped_tx_length : 54605 Overlapped_CDS_length : 2085 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100573683 Intersect_end : 100628288 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AACSGene_name : AACS; LOEUF_bin : 6 GnomAD_pLI : 9.1275e-17 ExAC_pLI : 4.2457e-12 HI : . TS : . DDD_HI_percent : 60.03 ACMG : . ExAC_cnvZ : 0.999713055858048 ExAC_delZ : 0.607059386287841 ExAC_dupZ : 0.990132030567623 ExAC_synZ : 0.678348484783048 ExAC_misZ : -0.492311064700297 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 65985 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_023928 Tx_version : 5 Tx_start : 125065434 Tx_end : 125143316 Exon_count : 18 Overlapped_tx_length : 77882 Overlapped_CDS_length : 2019 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125065434 Intersect_end : 125143316 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ACAD10Gene_name : ACAD10; LOEUF_bin : 6 GnomAD_pLI : 1.0177e-30 ExAC_pLI : 4.0146e-20 HI : . TS : . DDD_HI_percent : 71.16 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.632669646442501 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.171699759630068 ExAC_misZ : -0.597711726249043 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80724 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : 5'UTR-3'UTR Tx : NM_001136538 Tx_version : 2 Tx_start : 111686052 Tx_end : 111757099 Exon_count : 22 Overlapped_tx_length : 71047 Overlapped_CDS_length : 3273 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111686052 Intersect_end : 111757099 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
COQ10AGene_name : COQ10A; LOEUF_bin : 6 GnomAD_pLI : 3.6102e-04 ExAC_pLI : 1.2110e-01 HI : . TS : . DDD_HI_percent : 40.77 ACMG : . ExAC_cnvZ : 0.967298899706786 ExAC_delZ : 1.40265207034343 ExAC_dupZ : 0.531318502485351 ExAC_synZ : 0.544951800345074 ExAC_misZ : 0.613432877241757 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 93058 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_144576 Tx_version : 4 Tx_start : 56266941 Tx_end : 56270966 Exon_count : 5 Overlapped_tx_length : 4025 Overlapped_CDS_length : 744 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56266941 Intersect_end : 56270966 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CMKLR1Gene_name : CMKLR1; LOEUF_bin : 6 GnomAD_pLI : 1.0767e-02 ExAC_pLI : 6.8527e-02 HI : . TS : . DDD_HI_percent : 54.57 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.0873902752193764 ExAC_misZ : 0.0406615040098577 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1240 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001142343 Tx_version : 2 Tx_start : 108288045 Tx_end : 108339311 Exon_count : 4 Overlapped_tx_length : 51266 Overlapped_CDS_length : 1122 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108288045 Intersect_end : 108339311 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:108265781-108362157 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
INHBCGene_name : INHBC; LOEUF_bin : 6 GnomAD_pLI : 5.6341e-05 ExAC_pLI : 8.3686e-02 HI : . TS : . DDD_HI_percent : 65.42 ACMG : . ExAC_cnvZ : 0.477758454685936 ExAC_delZ : -0.158202466913973 ExAC_dupZ : 0.695408418464717 ExAC_synZ : -0.22271666893096 ExAC_misZ : 0.0737153835644515 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3626 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_005538 Tx_version : 4 Tx_start : 57434783 Tx_end : 57452062 Exon_count : 2 Overlapped_tx_length : 17279 Overlapped_CDS_length : 1059 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57434783 Intersect_end : 57452062 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC5A8Gene_name : SLC5A8; LOEUF_bin : 6 GnomAD_pLI : 4.9955e-16 ExAC_pLI : 2.8581e-11 HI : . TS : . DDD_HI_percent : 32.5 ACMG : . ExAC_cnvZ : -0.849897626611122 ExAC_delZ : -2.43747444568679 ExAC_dupZ : 0.491180211311578 ExAC_synZ : -1.69928736675108 ExAC_misZ : -0.27327872500598 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 160728 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1-q23.2 Location2 : 5'UTR-3'UTR Tx : NM_145913 Tx_version : 5 Tx_start : 101155492 Tx_end : 101210238 Exon_count : 15 Overlapped_tx_length : 54746 Overlapped_CDS_length : 1833 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101155492 Intersect_end : 101210238 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
YEATS4Gene_name : YEATS4; LOEUF_bin : 6 GnomAD_pLI : 7.4640e-05 ExAC_pLI : 9.8739e-02 HI : . TS : . DDD_HI_percent : 4.27 ACMG : . ExAC_cnvZ : 0.321907704289139 ExAC_delZ : 0.191976526421195 ExAC_dupZ : 0.262144975485777 ExAC_synZ : -0.754207960656107 ExAC_misZ : 2.69176461316102 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8089 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_006530 Tx_version : 4 Tx_start : 69359742 Tx_end : 69390870 Exon_count : 7 Overlapped_tx_length : 31128 Overlapped_CDS_length : 684 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69359742 Intersect_end : 69390870 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
APOFGene_name : APOF; LOEUF_bin : 6 GnomAD_pLI : 1.0295e-02 ExAC_pLI : 1.9338e-02 HI : . TS : . DDD_HI_percent : 75.04 ACMG : . ExAC_cnvZ : -0.0543006404808892 ExAC_delZ : 0.0955780835934576 ExAC_dupZ : -0.206779204936972 ExAC_synZ : -0.680605876716565 ExAC_misZ : -0.304553986162247 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 319 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001638 Tx_version : 4 Tx_start : 56360567 Tx_end : 56362857 Exon_count : 2 Overlapped_tx_length : 2290 Overlapped_CDS_length : 981 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56360567 Intersect_end : 56362857 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ALKBH2Gene_name : ALKBH2; LOEUF_bin : 6 GnomAD_pLI : 3.2745e-03 ExAC_pLI : 8.1669e-04 HI : . TS : . DDD_HI_percent : 83.44 ACMG : . ExAC_cnvZ : 0.748621262364211 ExAC_delZ : 0.924914471011594 ExAC_dupZ : 0.441400271069579 ExAC_synZ : 0.471398529206899 ExAC_misZ : -0.248009164242296 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121642 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001001655 Tx_version : 3 Tx_start : 109088188 Tx_end : 109093472 Exon_count : 4 Overlapped_tx_length : 5284 Overlapped_CDS_length : 786 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109088188 Intersect_end : 109093472 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
STX2Gene_name : STX2; LOEUF_bin : 6 GnomAD_pLI : 2.1087e-07 ExAC_pLI : 3.8652e-04 HI : . TS : . DDD_HI_percent : 62.97 ACMG : . ExAC_cnvZ : -0.1297292605677 ExAC_delZ : -0.375476684531409 ExAC_dupZ : -0.0239632129619356 ExAC_synZ : 0.205581320231401 ExAC_misZ : 0.102182285945798 GenCC_disease : spermatogenic failure GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 2054 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : XM_047428491 Tx_version : 1 Tx_start : 130795994 Tx_end : 130834076 Exon_count : 10 Overlapped_tx_length : 38082 Overlapped_CDS_length : 963 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130795994 Intersect_end : 130834076 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
WIF1Gene_name : WIF1; LOEUF_bin : 6 GnomAD_pLI : 1.3249e-09 ExAC_pLI : 2.4172e-05 HI : . TS : . DDD_HI_percent : 11.2 ACMG : . ExAC_cnvZ : -0.0486889769224081 ExAC_delZ : 0.526615453200982 ExAC_dupZ : -0.361038571206073 ExAC_synZ : -0.00904663425770821 ExAC_misZ : 0.0402196854647888 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11197 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : NM_007191 Tx_version : 5 Tx_start : 65050625 Tx_end : 65121305 Exon_count : 10 Overlapped_tx_length : 70680 Overlapped_CDS_length : 1140 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65050625 Intersect_end : 65121305 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
APPL2Gene_name : APPL2; LOEUF_bin : 6 GnomAD_pLI : 1.1641e-18 ExAC_pLI : 3.5282e-09 HI : . TS : . DDD_HI_percent : 47.72 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.261543166985891 ExAC_misZ : -0.663682137901258 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 334 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001251904 Tx_version : 2 Tx_start : 105173299 Tx_end : 105236174 Exon_count : 21 Overlapped_tx_length : 62875 Overlapped_CDS_length : 2013 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105173299 Intersect_end : 105236174 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MORN3Gene_name : MORN3; LOEUF_bin : 7 GnomAD_pLI : 1.5357e-07 ExAC_pLI : 1.8256e-06 HI : . TS : . DDD_HI_percent : 62.76 ACMG : . ExAC_cnvZ : -0.361219146224265 ExAC_delZ : -0.127205018056166 ExAC_dupZ : -0.448948638475111 ExAC_synZ : 1.06936809567044 ExAC_misZ : 0.0919629627048049 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283385 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001363685 Tx_version : 2 Tx_start : 121648741 Tx_end : 121672644 Exon_count : 7 Overlapped_tx_length : 23903 Overlapped_CDS_length : 723 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121648741 Intersect_end : 121672644 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BEST3Gene_name : BEST3; LOEUF_bin : 7 GnomAD_pLI : 2.0104e-19 ExAC_pLI : 3.6944e-17 HI : . TS : . DDD_HI_percent : 52.62 ACMG : . ExAC_cnvZ : 0.435791898254403 ExAC_delZ : 0.0369854275818703 ExAC_dupZ : 0.508856456923238 ExAC_synZ : -0.352978843522128 ExAC_misZ : -0.80818252749174 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144453 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_032735 Tx_version : 3 Tx_start : 69653608 Tx_end : 69699303 Exon_count : 10 Overlapped_tx_length : 45695 Overlapped_CDS_length : 2007 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69653608 Intersect_end : 69699303 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RAD9BGene_name : RAD9B; LOEUF_bin : 7 GnomAD_pLI : 3.0239e-13 ExAC_pLI : 3.6270e-05 HI : . TS : . DDD_HI_percent : 64.22 ACMG : . ExAC_cnvZ : 0.225469753118112 ExAC_delZ : 0.061238665054608 ExAC_dupZ : 0.222951831648996 ExAC_synZ : 0.459984310219734 ExAC_misZ : -1.2483948764821 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144715 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_152442 Tx_version : 4 Tx_start : 110502330 Tx_end : 110533556 Exon_count : 12 Overlapped_tx_length : 31226 Overlapped_CDS_length : 1290 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110502330 Intersect_end : 110533556 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT73Gene_name : KRT73; LOEUF_bin : 7 GnomAD_pLI : 7.1972e-12 ExAC_pLI : 2.0082e-11 HI : . TS : . DDD_HI_percent : 55.34 ACMG : . ExAC_cnvZ : -1.90659880074757 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 1.37547893642416 ExAC_synZ : -0.393094684269426 ExAC_misZ : -0.29250018181218 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 319101 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_047428761 Tx_version : 1 Tx_start : 52607569 Tx_end : 52630761 Exon_count : 11 Overlapped_tx_length : 23192 Overlapped_CDS_length : 1623 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52607569 Intersect_end : 52630761 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TCP11L2Gene_name : TCP11L2; LOEUF_bin : 7 GnomAD_pLI : 1.4743e-12 ExAC_pLI : 7.4881e-07 HI : . TS : . DDD_HI_percent : 39.25 ACMG : . ExAC_cnvZ : 1.17514094000187 ExAC_delZ : 0.732676617893207 ExAC_dupZ : 0.992983840496497 ExAC_synZ : 0.0653173494741538 ExAC_misZ : -1.04275025395351 GenCC_disease : schizophrenia GenCC_moi : . GenCC_classification : No Known Disease Relationship GenCC_pmid : 24463507 NCBI_gene_ID : 255394 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : XM_047428667 Tx_version : 1 Tx_start : 106297934 Tx_end : 106347003 Exon_count : 10 Overlapped_tx_length : 49069 Overlapped_CDS_length : 1560 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106297934 Intersect_end : 106347003 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GLIPR1L2Gene_name : GLIPR1L2; LOEUF_bin : 7 GnomAD_pLI : 2.2717e-07 ExAC_pLI : 3.1086e-03 HI : . TS : . DDD_HI_percent : 86.85 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.285851324281096 ExAC_misZ : -0.709769263969177 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144321 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : XM_047428338 Tx_version : 1 Tx_start : 75391088 Tx_end : 75413189 Exon_count : 3 Overlapped_tx_length : 22101 Overlapped_CDS_length : 1086 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75391088 Intersect_end : 75413189 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMPRSS12Gene_name : TMPRSS12; LOEUF_bin : 7 GnomAD_pLI : 5.6068e-06 ExAC_pLI : 3.1163e-03 HI : . TS : . DDD_HI_percent : 85.73 ACMG : . ExAC_cnvZ : -0.198182788076392 ExAC_delZ : -0.403243992153817 ExAC_dupZ : -0.0434946575857353 ExAC_synZ : 0.232719383558556 ExAC_misZ : -0.161218891760313 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283471 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_182559 Tx_version : 3 Tx_start : 50842925 Tx_end : 50887884 Exon_count : 5 Overlapped_tx_length : 44959 Overlapped_CDS_length : 1047 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50842925 Intersect_end : 50887884 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IL26Gene_name : IL26; LOEUF_bin : 7 GnomAD_pLI : 5.3514e-04 ExAC_pLI : 5.2762e-02 HI : . TS : . DDD_HI_percent : 70.38 ACMG : . ExAC_cnvZ : 0.312870894389909 ExAC_delZ : 0.191347959667933 ExAC_dupZ : 0.24632366919347 ExAC_synZ : -0.0193856647849805 ExAC_misZ : -0.453172304446933 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55801 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_018402 Tx_version : 2 Tx_start : 68201348 Tx_end : 68225810 Exon_count : 5 Overlapped_tx_length : 24462 Overlapped_CDS_length : 516 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68201348 Intersect_end : 68225810 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GLT1D1Gene_name : GLT1D1; LOEUF_bin : 7 GnomAD_pLI : 6.1378e-08 ExAC_pLI : 9.1508e-05 HI : . TS : . DDD_HI_percent : 84.78 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.277157692733434 ExAC_misZ : -0.0116483978296668 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144423 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : NM_001366889 Tx_version : 1 Tx_start : 128853477 Tx_end : 128984968 Exon_count : 13 Overlapped_tx_length : 131491 Overlapped_CDS_length : 1089 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128853477 Intersect_end : 128984968 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C6Gene_name : OR6C6; LOEUF_bin : 7 GnomAD_pLI : 2.2211e-02 ExAC_pLI : 6.5838e-02 HI : . TS : . DDD_HI_percent : 83.56 ACMG : . ExAC_cnvZ : 0.0573732196729461 ExAC_delZ : 0.302872746563069 ExAC_dupZ : -0.175945963240161 ExAC_synZ : -0.926794681853314 ExAC_misZ : -2.0752033051439 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283365 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005493 Tx_version : 2 Tx_start : 55293987 Tx_end : 55296569 Exon_count : 2 Overlapped_tx_length : 2582 Overlapped_CDS_length : 945 Overlapped_CDS_percent : 97 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55293987 Intersect_end : 55296569 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GLIPR1L1Gene_name : GLIPR1L1; LOEUF_bin : 7 GnomAD_pLI : 1.0546e-06 ExAC_pLI : 3.6634e-03 HI : . TS : . DDD_HI_percent : 97.71 ACMG : . ExAC_cnvZ : 0.37952482008154 ExAC_delZ : 0.524528573917258 ExAC_dupZ : 0.126294668402342 ExAC_synZ : 0.749546936803167 ExAC_misZ : -1.0860872628501 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 256710 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_001304964 Tx_version : 2 Tx_start : 75334669 Tx_end : 75370560 Exon_count : 6 Overlapped_tx_length : 35891 Overlapped_CDS_length : 729 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75334669 Intersect_end : 75370560 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RHEBL1Gene_name : RHEBL1; LOEUF_bin : 7 GnomAD_pLI : 2.1883e-06 ExAC_pLI : 3.2930e-06 HI : . TS : . DDD_HI_percent : 27.13 ACMG : . ExAC_cnvZ : 0.171479386980904 ExAC_delZ : 1.10768051135995 ExAC_dupZ : -0.297548571958676 ExAC_synZ : 1.3886594982316 ExAC_misZ : 0.874832078912021 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121268 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_047428284 Tx_version : 1 Tx_start : 49065209 Tx_end : 49069979 Exon_count : 7 Overlapped_tx_length : 4770 Overlapped_CDS_length : 585 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49065209 Intersect_end : 49069979 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC35E3Gene_name : SLC35E3; LOEUF_bin : 7 GnomAD_pLI : 5.8322e-07 ExAC_pLI : 4.0678e-04 HI : . TS : . DDD_HI_percent : 71.33 ACMG : . ExAC_cnvZ : -0.487327361504122 ExAC_delZ : 0.586540804456861 ExAC_dupZ : -0.953660733053552 ExAC_synZ : 0.451653513007631 ExAC_misZ : 0.171977858602594 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55508 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_018656 Tx_version : 5 Tx_start : 68746175 Tx_end : 68781468 Exon_count : 5 Overlapped_tx_length : 35293 Overlapped_CDS_length : 942 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68746175 Intersect_end : 68781468 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SOAT2Gene_name : SOAT2; LOEUF_bin : 7 GnomAD_pLI : 5.5830e-28 ExAC_pLI : 9.1012e-18 HI : . TS : . DDD_HI_percent : 62.24 ACMG : . ExAC_cnvZ : -0.128570989933396 ExAC_delZ : -0.945320663310319 ExAC_dupZ : 0.431388921492489 ExAC_synZ : 0.737880259299199 ExAC_misZ : -0.452246056774059 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8435 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_003578 Tx_version : 4 Tx_start : 53103485 Tx_end : 53124535 Exon_count : 15 Overlapped_tx_length : 21050 Overlapped_CDS_length : 1569 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53103485 Intersect_end : 53124535 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MYL6Gene_name : MYL6; LOEUF_bin : 7 GnomAD_pLI : 6.5343e-04 ExAC_pLI : 2.5662e-01 HI : . TS : . DDD_HI_percent : 32.18 ACMG : . ExAC_cnvZ : 0.827364139407921 ExAC_delZ : 0.981545394776457 ExAC_dupZ : 0.514969832733792 ExAC_synZ : 0.283131870146844 ExAC_misZ : 0.775688979332048 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4637 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_021019 Tx_version : 5 Tx_start : 56158358 Tx_end : 56161579 Exon_count : 7 Overlapped_tx_length : 3221 Overlapped_CDS_length : 456 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56158358 Intersect_end : 56161579 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HALGene_name : HAL; LOEUF_bin : 7 GnomAD_pLI : 2.4971e-23 ExAC_pLI : 5.9087e-17 HI : . TS : . DDD_HI_percent : 14.77 ACMG : . ExAC_cnvZ : -2.10897655437986 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.09057132173046 ExAC_synZ : -0.14854222418042 ExAC_misZ : -0.32582781461776 GenCC_disease : histidinemia GenCC_moi : AR GenCC_classification : Limited; Supportive GenCC_pmid : 15806399[PMID] NCBI_gene_ID : 3034 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_002108 Tx_version : 4 Tx_start : 95972661 Tx_end : 95996344 Exon_count : 21 Overlapped_tx_length : 23683 Overlapped_CDS_length : 1974 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95972661 Intersect_end : 95996344 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM106CGene_name : TMEM106C; LOEUF_bin : 7 GnomAD_pLI : 1.5025e-08 ExAC_pLI : 3.9602e-06 HI : . TS : . DDD_HI_percent : 62.28 ACMG : . ExAC_cnvZ : -0.212497057281376 ExAC_delZ : -1.6841588503597 ExAC_dupZ : 1.03028764571254 ExAC_synZ : 0.0628503412088306 ExAC_misZ : 0.133350678210581 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79022 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001143842 Tx_version : 2 Tx_start : 47963595 Tx_end : 47968878 Exon_count : 8 Overlapped_tx_length : 5283 Overlapped_CDS_length : 753 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47963595 Intersect_end : 47968878 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR10AD1Gene_name : OR10AD1; LOEUF_bin : 7 GnomAD_pLI : 8.5157e-03 ExAC_pLI : 3.5168e-03 HI : . TS : . DDD_HI_percent : 71.93 ACMG : . ExAC_cnvZ : 0.338202120918484 ExAC_delZ : -0.0546189601389001 ExAC_dupZ : 0.317998488335553 ExAC_synZ : -1.03519619703434 ExAC_misZ : -1.15813859909381 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121275 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001004134 Tx_version : 1 Tx_start : 48202338 Tx_end : 48203292 Exon_count : 1 Overlapped_tx_length : 954 Overlapped_CDS_length : 954 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48202338 Intersect_end : 48203292 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PSMD9Gene_name : PSMD9; LOEUF_bin : 7 GnomAD_pLI : 4.8603e-06 ExAC_pLI : 3.7763e-05 HI : . TS : . DDD_HI_percent : 47.41 ACMG : . ExAC_cnvZ : 0.273709134888558 ExAC_delZ : -0.151674515772753 ExAC_dupZ : 0.404589082076063 ExAC_synZ : 0.985264702074772 ExAC_misZ : -0.00382521841321098 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5715 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_002813 Tx_version : 7 Tx_start : 121888789 Tx_end : 121918297 Exon_count : 6 Overlapped_tx_length : 29508 Overlapped_CDS_length : 672 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121888789 Intersect_end : 121918297 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PARPBPGene_name : PARPBP; LOEUF_bin : 7 GnomAD_pLI : 1.1929e-16 ExAC_pLI : 9.6666e-13 HI : . TS : . DDD_HI_percent : 31.35 ACMG : . ExAC_cnvZ : -0.281221235793319 ExAC_delZ : -0.122813846396462 ExAC_dupZ : -0.378387171615216 ExAC_synZ : -0.211366730687139 ExAC_misZ : -2.23188885888662 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55010 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001319988 Tx_version : 2 Tx_start : 102120182 Tx_end : 102197520 Exon_count : 12 Overlapped_tx_length : 77338 Overlapped_CDS_length : 1971 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102120182 Intersect_end : 102197520 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:102057222-102377222 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OAS3Gene_name : OAS3; LOEUF_bin : 7 GnomAD_pLI : 1.9653e-33 ExAC_pLI : 1.8224e-23 HI : . TS : . DDD_HI_percent : 88.28 ACMG : . ExAC_cnvZ : -2.34276667360624 ExAC_delZ : 0.590698450967653 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.287745401479928 ExAC_misZ : -0.482378250959373 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4940 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_006187 Tx_version : 4 Tx_start : 112938473 Tx_end : 112973251 Exon_count : 16 Overlapped_tx_length : 34778 Overlapped_CDS_length : 3264 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112938473 Intersect_end : 112973251 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IKBIPGene_name : IKBIP; LOEUF_bin : 7 GnomAD_pLI : 7.6128e-08 ExAC_pLI : 9.5933e-05 HI : . TS : . DDD_HI_percent : 41.12 ACMG : . ExAC_cnvZ : 0.675531833651274 ExAC_delZ : 0.245368868002326 ExAC_dupZ : 0.584638068368671 ExAC_synZ : -0.30446865162458 ExAC_misZ : -0.0609995367239393 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121457 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_153687 Tx_version : 4 Tx_start : 98624248 Tx_end : 98644788 Exon_count : 3 Overlapped_tx_length : 20540 Overlapped_CDS_length : 1134 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98624248 Intersect_end : 98644788 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : 5'UTR-3'UTR Tx : XM_005253880 Tx_version : 4 Tx_start : 119593773 Tx_end : 119633062 Exon_count : 3 Overlapped_tx_length : 39289 Overlapped_CDS_length : 432 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119593773 Intersect_end : 119633062 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT78Gene_name : KRT78; LOEUF_bin : 7 GnomAD_pLI : 1.4942e-15 ExAC_pLI : 2.0564e-08 HI : . TS : . DDD_HI_percent : 80.17 ACMG : . ExAC_cnvZ : 0.95984275783309 ExAC_delZ : 0.481976606382992 ExAC_dupZ : 0.860752507285962 ExAC_synZ : -0.18049706060943 ExAC_misZ : -1.74489168120548 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 196374 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_173352 Tx_version : 4 Tx_start : 52837806 Tx_end : 52848994 Exon_count : 9 Overlapped_tx_length : 11188 Overlapped_CDS_length : 1563 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52837806 Intersect_end : 52848994 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GLT8D2Gene_name : GLT8D2; LOEUF_bin : 7 GnomAD_pLI : 1.7287e-14 ExAC_pLI : 3.3440e-07 HI : . TS : . DDD_HI_percent : 31.94 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.01089892126136 ExAC_misZ : -0.106145327998632 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 83468 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001384712 Tx_version : 1 Tx_start : 103988986 Tx_end : 104050187 Exon_count : 10 Overlapped_tx_length : 61201 Overlapped_CDS_length : 1065 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103988986 Intersect_end : 104050187 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FBXW8Gene_name : FBXW8; LOEUF_bin : 7 GnomAD_pLI : 5.2356e-16 ExAC_pLI : 8.6911e-13 HI : . TS : . DDD_HI_percent : 42.98 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.904302303841484 ExAC_misZ : -0.318032083440832 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26259 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : 5'UTR-3'UTR Tx : XM_024448937 Tx_version : 2 Tx_start : 116910949 Tx_end : 117031148 Exon_count : 12 Overlapped_tx_length : 120199 Overlapped_CDS_length : 1998 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116910949 Intersect_end : 117031148 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MYO1AGene_name : MYO1A; LOEUF_bin : 7 GnomAD_pLI : 8.8970e-46 ExAC_pLI : 1.9452e-35 HI : . TS : . DDD_HI_percent : 48.45 ACMG : . ExAC_cnvZ : 1.38811165066672 ExAC_delZ : 1.53770167959187 ExAC_dupZ : 0.992183499319304 ExAC_synZ : -0.642876828196212 ExAC_misZ : -1.20067895680801 GenCC_disease : nonsyndromic genetic hearing loss GenCC_moi : AD GenCC_classification : Refuted Evidence GenCC_pmid : . NCBI_gene_ID : 4640 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001256041 Tx_version : 2 Tx_start : 57028516 Tx_end : 57051198 Exon_count : 29 Overlapped_tx_length : 22682 Overlapped_CDS_length : 3132 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57028516 Intersect_end : 57051198 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT79Gene_name : KRT79; LOEUF_bin : 7 GnomAD_pLI : 9.8728e-17 ExAC_pLI : 2.9865e-10 HI : . TS : . DDD_HI_percent : 82.14 ACMG : . ExAC_cnvZ : 0.709648624919437 ExAC_delZ : 0.55652891244443 ExAC_dupZ : 0.53286855426849 ExAC_synZ : -0.51683691304778 ExAC_misZ : -0.526729993139687 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 338785 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_175834 Tx_version : 3 Tx_start : 52821407 Tx_end : 52834311 Exon_count : 9 Overlapped_tx_length : 12904 Overlapped_CDS_length : 1608 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52821407 Intersect_end : 52834311 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RHOFGene_name : RHOF; LOEUF_bin : 7 GnomAD_pLI : 1.7569e-04 ExAC_pLI : 5.2074e-03 HI : . TS : . DDD_HI_percent : 51.6 ACMG : . ExAC_cnvZ : 0.72272563437945 ExAC_delZ : 0.243995232407319 ExAC_dupZ : 0.683671341839193 ExAC_synZ : 0.270473669375721 ExAC_misZ : 0.244416650107023 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 54509 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_019034 Tx_version : 3 Tx_start : 121777753 Tx_end : 121793688 Exon_count : 5 Overlapped_tx_length : 15935 Overlapped_CDS_length : 636 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121777753 Intersect_end : 121793688 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT7Gene_name : KRT7; LOEUF_bin : 7 GnomAD_pLI : 3.0861e-12 ExAC_pLI : 2.7864e-09 HI : . TS : . DDD_HI_percent : 59.8 ACMG : . ExAC_cnvZ : 0.0670709836039037 ExAC_delZ : -0.562682523699815 ExAC_dupZ : 0.484361720500886 ExAC_synZ : 1.78453228879037 ExAC_misZ : 0.731149729901137 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3855 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_005556 Tx_version : 4 Tx_start : 52233242 Tx_end : 52248921 Exon_count : 9 Overlapped_tx_length : 15679 Overlapped_CDS_length : 1410 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52233242 Intersect_end : 52248921 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
C12orf43Gene_name : C12orf43; LOEUF_bin : 7 GnomAD_pLI : 1.0484e-04 ExAC_pLI : 2.5601e-07 HI : . TS : . DDD_HI_percent : 84.86 ACMG : . ExAC_cnvZ : -0.00900755439646285 ExAC_delZ : 0.5692475336751 ExAC_dupZ : -0.326190547534549 ExAC_synZ : 0.840582014851394 ExAC_misZ : 0.423326972309958 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64897 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001286191 Tx_version : 2 Tx_start : 121000485 Tx_end : 121016487 Exon_count : 6 Overlapped_tx_length : 16002 Overlapped_CDS_length : 882 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121000485 Intersect_end : 121016487 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Maturity-onset_diabetes_of_the_young_type_3; Monogenic_diabetes |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LIN7AGene_name : LIN7A; LOEUF_bin : 7 GnomAD_pLI : 1.1286e-07 ExAC_pLI : 4.1148e-02 HI : . TS : . DDD_HI_percent : 18.84 ACMG : . ExAC_cnvZ : 0.155012031067607 ExAC_delZ : -0.25867602546172 ExAC_dupZ : 0.299713293709397 ExAC_synZ : 0.625892525190641 ExAC_misZ : 0.624960807097594 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8825 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_004664 Tx_version : 4 Tx_start : 80792519 Tx_end : 80937934 Exon_count : 6 Overlapped_tx_length : 145415 Overlapped_CDS_length : 702 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80792519 Intersect_end : 80937934 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CAPS2Gene_name : CAPS2; LOEUF_bin : 7 GnomAD_pLI : 6.0736e-24 ExAC_pLI : 2.6507e-09 HI : . TS : . DDD_HI_percent : 67.95 ACMG : . ExAC_cnvZ : 0.693898350754801 ExAC_delZ : 0.850318954093822 ExAC_dupZ : 0.395315779607074 ExAC_synZ : -0.938474396363098 ExAC_misZ : -0.724818856192152 GenCC_disease : intellectual disability GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 93664 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1-q21.2 Location2 : 5'UTR-3'UTR Tx : XM_047429724 Tx_version : 1 Tx_start : 75275978 Tx_end : 75390901 Exon_count : 24 Overlapped_tx_length : 114923 Overlapped_CDS_length : 1845 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75275978 Intersect_end : 75390901 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
INHBEGene_name : INHBE; LOEUF_bin : 7 GnomAD_pLI : 1.1184e-08 ExAC_pLI : 7.6803e-06 HI : . TS : . DDD_HI_percent : 1 ACMG : . ExAC_cnvZ : 0.114741190707441 ExAC_delZ : -0.454256435531319 ExAC_dupZ : 0.444975018186728 ExAC_synZ : -0.632496523155062 ExAC_misZ : 0.716713595245474 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 83729 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_031479 Tx_version : 5 Tx_start : 57455306 Tx_end : 57458025 Exon_count : 2 Overlapped_tx_length : 2719 Overlapped_CDS_length : 1053 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57455306 Intersect_end : 57458025 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NDUFA4L2Gene_name : NDUFA4L2; LOEUF_bin : 7 GnomAD_pLI : 8.6367e-02 ExAC_pLI : 1.4252e-02 HI : . TS : . DDD_HI_percent : 52 ACMG : . ExAC_cnvZ : 0.664947836409456 ExAC_delZ : -0.0269773321180296 ExAC_dupZ : 0.866916805579503 ExAC_synZ : 0.229735726123968 ExAC_misZ : -1.02843169398929 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 56901 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_020142 Tx_version : 4 Tx_start : 57234902 Tx_end : 57240762 Exon_count : 5 Overlapped_tx_length : 5860 Overlapped_CDS_length : 264 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57234902 Intersect_end : 57240762 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BCDIN3DGene_name : BCDIN3D; LOEUF_bin : 7 GnomAD_pLI : 3.8663e-05 ExAC_pLI : 5.0391e-03 HI : . TS : . DDD_HI_percent : 51.48 ACMG : . ExAC_cnvZ : 0.453243368843188 ExAC_delZ : -0.118231668005276 ExAC_dupZ : 0.751712586511647 ExAC_synZ : 0.999836478481519 ExAC_misZ : -0.0151456357068313 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144233 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_181708 Tx_version : 3 Tx_start : 49836042 Tx_end : 49843106 Exon_count : 2 Overlapped_tx_length : 7064 Overlapped_CDS_length : 879 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49836042 Intersect_end : 49843106 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCDC63Gene_name : CCDC63; LOEUF_bin : 7 GnomAD_pLI : 5.2679e-19 ExAC_pLI : 4.4804e-10 HI : . TS : . DDD_HI_percent : 79.81 ACMG : . ExAC_cnvZ : 0.174887721683294 ExAC_delZ : 0.229239407409943 ExAC_dupZ : 0.0694628628430053 ExAC_synZ : -0.260954984593402 ExAC_misZ : -0.876661642104336 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 160762 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : XM_011538001 Tx_version : 3 Tx_start : 110844485 Tx_end : 110907535 Exon_count : 13 Overlapped_tx_length : 63050 Overlapped_CDS_length : 1692 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110844485 Intersect_end : 110907535 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SPRYD4Gene_name : SPRYD4; LOEUF_bin : 7 GnomAD_pLI : 7.9114e-03 ExAC_pLI : 5.8921e-04 HI : . TS : . DDD_HI_percent : 44.59 ACMG : . ExAC_cnvZ : 0.987418092894276 ExAC_delZ : 0.898600275775615 ExAC_dupZ : 0.737245202293846 ExAC_synZ : 0.14223728998022 ExAC_misZ : 1.0302536953086 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283377 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_207344 Tx_version : 4 Tx_start : 56468577 Tx_end : 56479708 Exon_count : 2 Overlapped_tx_length : 11131 Overlapped_CDS_length : 624 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56468577 Intersect_end : 56479708 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
AVPR1AGene_name : AVPR1A; LOEUF_bin : 7 GnomAD_pLI : 6.8987e-07 ExAC_pLI : 1.2865e-05 HI : . TS : . DDD_HI_percent : 43.64 ACMG : . ExAC_cnvZ : -0.0467120283149655 ExAC_delZ : -0.792912951274648 ExAC_dupZ : 0.476760300541057 ExAC_synZ : 2.69541068001228 ExAC_misZ : 3.08861898162895 GenCC_disease : autism spectrum disorder GenCC_moi : . GenCC_classification : Disputed Evidence GenCC_pmid : . NCBI_gene_ID : 552 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : 5'UTR-3'UTR Tx : NM_000706 Tx_version : 5 Tx_start : 63142758 Tx_end : 63151201 Exon_count : 2 Overlapped_tx_length : 8443 Overlapped_CDS_length : 1257 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 63142758 Intersect_end : 63151201 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:63119437-63228668; chr12:63141020-63191370 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT77Gene_name : KRT77; LOEUF_bin : 7 GnomAD_pLI : 1.4217e-12 ExAC_pLI : 1.0529e-06 HI : . TS : . DDD_HI_percent : 82.41 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : 0.3877081521515 ExAC_synZ : 0.7667170083646 ExAC_misZ : 0.104870645154442 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 374454 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_175078 Tx_version : 3 Tx_start : 52689625 Tx_end : 52703524 Exon_count : 9 Overlapped_tx_length : 13899 Overlapped_CDS_length : 1737 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52689625 Intersect_end : 52703524 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_182530 Tx_version : 3 Tx_start : 69825226 Tx_end : 69959097 Exon_count : 25 Overlapped_tx_length : 133871 Overlapped_CDS_length : 2733 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69825226 Intersect_end : 69959097 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MYL6BGene_name : MYL6B; LOEUF_bin : 7 GnomAD_pLI : 6.0924e-06 ExAC_pLI : 3.7338e-03 HI : . TS : . DDD_HI_percent : 40.25 ACMG : . ExAC_cnvZ : 1.02677667042279 ExAC_delZ : 0.896911904644992 ExAC_dupZ : 0.780379649269521 ExAC_synZ : 0.83127687780223 ExAC_misZ : -0.121866950807769 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140465 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001199629 Tx_version : 2 Tx_start : 56152586 Tx_end : 56157982 Exon_count : 8 Overlapped_tx_length : 5396 Overlapped_CDS_length : 627 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56152586 Intersect_end : 56157982 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TSPAN11Gene_name : TSPAN11; LOEUF_bin : 7 GnomAD_pLI : 6.9450e-07 ExAC_pLI : 2.9598e-05 HI : . TS : . DDD_HI_percent : 74.79 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.539336494181121 ExAC_misZ : -0.328189698701632 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 441631 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : XM_011520679 Tx_version : 3 Tx_start : 30926747 Tx_end : 31005033 Exon_count : 9 Overlapped_tx_length : 78286 Overlapped_CDS_length : 909 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 30926747 Intersect_end : 31005033 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C2Gene_name : OR6C2; LOEUF_bin : 7 GnomAD_pLI : 9.2283e-02 ExAC_pLI : 6.5829e-01 HI : . TS : . DDD_HI_percent : 86.78 ACMG : . ExAC_cnvZ : 0.525155398413481 ExAC_delZ : 0.806176809631845 ExAC_dupZ : 0.201093716015534 ExAC_synZ : -1.62433182586077 ExAC_misZ : -3.26682402573016 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 341416 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_054105 Tx_version : 2 Tx_start : 55444075 Tx_end : 55453347 Exon_count : 2 Overlapped_tx_length : 9272 Overlapped_CDS_length : 939 Overlapped_CDS_percent : 82 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55444075 Intersect_end : 55453347 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DCDGene_name : DCD; LOEUF_bin : 8 GnomAD_pLI : 1.5781e-04 ExAC_pLI : 3.6107e-03 HI : . TS : . DDD_HI_percent : 93.92 ACMG : . ExAC_cnvZ : 0.769637245024567 ExAC_delZ : 0.271440160952079 ExAC_dupZ : 0.71560170843918 ExAC_synZ : 0.20245954494277 ExAC_misZ : -0.767066743332536 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 117159 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001300854 Tx_version : 2 Tx_start : 54644588 Tx_end : 54648365 Exon_count : 6 Overlapped_tx_length : 3777 Overlapped_CDS_length : 366 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54644588 Intersect_end : 54648365 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC5Gene_name : HOXC5; LOEUF_bin : 8 GnomAD_pLI : 5.7754e-05 ExAC_pLI : 3.9074e-02 HI : . TS : . DDD_HI_percent : 5.39 ACMG : . ExAC_cnvZ : 0.770790874022807 ExAC_delZ : 0.321550372578957 ExAC_dupZ : 0.685373760965442 ExAC_synZ : 2.70233211535844 ExAC_misZ : 0.984748958473296 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3222 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_018953 Tx_version : 4 Tx_start : 54033049 Tx_end : 54035361 Exon_count : 2 Overlapped_tx_length : 2312 Overlapped_CDS_length : 669 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54033049 Intersect_end : 54035361 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RDH16Gene_name : RDH16; LOEUF_bin : 8 GnomAD_pLI : 4.3901e-07 ExAC_pLI : 8.5988e-05 HI : . TS : . DDD_HI_percent : 81.69 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.463146980828832 ExAC_misZ : -0.507892332716286 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8608 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_003708 Tx_version : 5 Tx_start : 56951430 Tx_end : 56957608 Exon_count : 4 Overlapped_tx_length : 6178 Overlapped_CDS_length : 954 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56951430 Intersect_end : 56957608 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:56939286-56982828; chr12:56940163-56988848; chr12:56941015-56984216 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZNF664Gene_name : ZNF664; LOEUF_bin : 8 GnomAD_pLI : 1.3267e-03 ExAC_pLI : 1.6268e-03 HI : . TS : . DDD_HI_percent : 52 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.522115527071865 ExAC_misZ : 2.63871500801654 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144348 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001204298 Tx_version : 2 Tx_start : 123973214 Tx_end : 124015427 Exon_count : 5 Overlapped_tx_length : 42213 Overlapped_CDS_length : 786 Overlapped_CDS_percent : 23 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123973214 Intersect_end : 124015427 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMBIM4Gene_name : TMBIM4; LOEUF_bin : 8 GnomAD_pLI : 3.8876e-06 ExAC_pLI : 2.0800e-03 HI : . TS : . DDD_HI_percent : 43.64 ACMG : . ExAC_cnvZ : -1.23087798328857 ExAC_delZ : -1.70590570872777 ExAC_dupZ : -0.923006534527363 ExAC_synZ : 0.846526367035289 ExAC_misZ : 0.132998332375928 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51643 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : 5'UTR-3'UTR Tx : NM_001282606 Tx_version : 2 Tx_start : 66135845 Tx_end : 66169996 Exon_count : 8 Overlapped_tx_length : 34151 Overlapped_CDS_length : 858 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66135845 Intersect_end : 66169996 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SELPLGGene_name : SELPLG; LOEUF_bin : 8 GnomAD_pLI : 1.7680e-01 ExAC_pLI : 4.9544e-03 HI : . TS : . DDD_HI_percent : 92.51 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.358156347117146 ExAC_misZ : -0.564719135711666 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6404 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001206609 Tx_version : 2 Tx_start : 108621894 Tx_end : 108632081 Exon_count : 2 Overlapped_tx_length : 10187 Overlapped_CDS_length : 1287 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108621894 Intersect_end : 108632081 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SNRNP35Gene_name : SNRNP35; LOEUF_bin : 8 GnomAD_pLI : 7.1094e-09 ExAC_pLI : 2.2833e-07 HI : . TS : . DDD_HI_percent : 61.24 ACMG : . ExAC_cnvZ : -0.0747144344113003 ExAC_delZ : 0.0442291951835645 ExAC_dupZ : -0.203648896185673 ExAC_synZ : 0.0870748689217845 ExAC_misZ : 1.18366711473414 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11066 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_180699 Tx_version : 3 Tx_start : 123459703 Tx_end : 123466394 Exon_count : 2 Overlapped_tx_length : 6691 Overlapped_CDS_length : 756 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123459703 Intersect_end : 123466394 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C74Gene_name : OR6C74; LOEUF_bin : 8 GnomAD_pLI : 3.3696e-03 ExAC_pLI : 7.8009e-02 HI : . TS : . DDD_HI_percent : 82.57 ACMG : . ExAC_cnvZ : 0.342978926834846 ExAC_delZ : 0.873037523461837 ExAC_dupZ : -0.0398840543256744 ExAC_synZ : -1.14482392648496 ExAC_misZ : -0.101483438786911 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 254783 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005490 Tx_version : 2 Tx_start : 55244608 Tx_end : 55256625 Exon_count : 2 Overlapped_tx_length : 12017 Overlapped_CDS_length : 939 Overlapped_CDS_percent : 10 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55244608 Intersect_end : 55256625 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IL22Gene_name : IL22; LOEUF_bin : 8 GnomAD_pLI : 1.8843e-04 ExAC_pLI : 4.9072e-01 HI : . TS : . DDD_HI_percent : 78.67 ACMG : . ExAC_cnvZ : 0.165276724199379 ExAC_delZ : 0.227910876575666 ExAC_dupZ : 0.0516241385200917 ExAC_synZ : -0.365428487483775 ExAC_misZ : 0.193046906512468 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 50616 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : 5'UTR-3'UTR Tx : NM_020525 Tx_version : 5 Tx_start : 68248241 Tx_end : 68253604 Exon_count : 6 Overlapped_tx_length : 5363 Overlapped_CDS_length : 540 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68248241 Intersect_end : 68253604 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DAOGene_name : DAO; LOEUF_bin : 8 GnomAD_pLI : 6.2271e-22 ExAC_pLI : 9.2625e-15 HI : . TS : . DDD_HI_percent : 46.67 ACMG : . ExAC_cnvZ : -1.6404133097334 ExAC_delZ : -0.00784778315129917 ExAC_dupZ : -2.22236438902246 ExAC_synZ : -0.272675714405265 ExAC_misZ : 0.00171840082311713 GenCC_disease : amyotrophic lateral sclerosis GenCC_moi : AD GenCC_classification : Moderate; Refuted Evidence; Supportive GenCC_pmid : 24085347[PMID]_20368421[PMID] NCBI_gene_ID : 26 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001413634 Tx_version : 1 Tx_start : 108880091 Tx_end : 108901043 Exon_count : 12 Overlapped_tx_length : 20952 Overlapped_CDS_length : 1044 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108880091 Intersect_end : 108901043 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CCDC59Gene_name : CCDC59; LOEUF_bin : 8 GnomAD_pLI : 4.0319e-11 ExAC_pLI : 6.8049e-04 HI : . TS : . DDD_HI_percent : 71.17 ACMG : . ExAC_cnvZ : -0.50340220320127 ExAC_delZ : -1.2945500795499 ExAC_dupZ : 0.0892167078646006 ExAC_synZ : -0.483208703252483 ExAC_misZ : -1.03996132036715 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 29080 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_014167 Tx_version : 5 Tx_start : 82352302 Tx_end : 82358387 Exon_count : 4 Overlapped_tx_length : 6085 Overlapped_CDS_length : 726 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 82352302 Intersect_end : 82358387 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DEPDC4Gene_name : DEPDC4; LOEUF_bin : 8 GnomAD_pLI : 1.0075e-09 ExAC_pLI : 4.1042e-09 HI : . TS : . DDD_HI_percent : 78.08 ACMG : . ExAC_cnvZ : -1.70499700231813 ExAC_delZ : -1.48382850545664 ExAC_dupZ : -1.78252225310257 ExAC_synZ : -0.467586289326297 ExAC_misZ : -0.912616276375855 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 120863 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001387201 Tx_version : 1 Tx_start : 100237797 Tx_end : 100267079 Exon_count : 11 Overlapped_tx_length : 29282 Overlapped_CDS_length : 1668 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100237797 Intersect_end : 100267079 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NTSGene_name : NTS; LOEUF_bin : 8 GnomAD_pLI : 3.8527e-05 ExAC_pLI : 7.9710e-06 HI : . TS : . DDD_HI_percent : 1.64 ACMG : . ExAC_cnvZ : -0.757309108176063 ExAC_delZ : -0.165026579102773 ExAC_dupZ : -1.01636287570723 ExAC_synZ : -0.0283920041644439 ExAC_misZ : -0.983873171522391 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4922 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_006183 Tx_version : 5 Tx_start : 85874294 Tx_end : 85882992 Exon_count : 4 Overlapped_tx_length : 8698 Overlapped_CDS_length : 513 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 85874294 Intersect_end : 85882992 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:85871427-85894460 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HCAR2Gene_name : HCAR2; LOEUF_bin : 8 GnomAD_pLI : 1.8933e-04 ExAC_pLI : 2.0109e-02 HI : . TS : . DDD_HI_percent : 77.71 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.48735169230209 ExAC_misZ : 2.31396493824121 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 338442 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_177551 Tx_version : 4 Tx_start : 122701292 Tx_end : 122703357 Exon_count : 1 Overlapped_tx_length : 2065 Overlapped_CDS_length : 1092 Overlapped_CDS_percent : 93 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122701292 Intersect_end : 122703357 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:122696453-122709203; chr12:122701033-122714056 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MAP1LC3B2Gene_name : MAP1LC3B2; LOEUF_bin : 8 GnomAD_pLI : 1.2693e-02 ExAC_pLI : 2.3706e-02 HI : . TS : . DDD_HI_percent : 85.94 ACMG : . ExAC_cnvZ : 1.11691353205032 ExAC_delZ : 1.05968937723301 ExAC_dupZ : 0.822761560209532 ExAC_synZ : 0.314331667990693 ExAC_misZ : 0.515559601193796 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 643246 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : 5'UTR-3'UTR Tx : NM_001085481 Tx_version : 3 Tx_start : 116559380 Tx_end : 116576606 Exon_count : 2 Overlapped_tx_length : 17226 Overlapped_CDS_length : 378 Overlapped_CDS_percent : 56 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116559380 Intersect_end : 116576606 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
B3GNT4Gene_name : B3GNT4; LOEUF_bin : 8 GnomAD_pLI : 7.6758e-07 ExAC_pLI : 3.9367e-06 HI : . TS : . DDD_HI_percent : 72.69 ACMG : . ExAC_cnvZ : -0.757563761990644 ExAC_delZ : -1.3740570017859 ExAC_dupZ : -0.234404548505644 ExAC_synZ : -1.91931736733998 ExAC_misZ : -2.35707377328396 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79369 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_030765 Tx_version : 4 Tx_start : 122203708 Tx_end : 122208952 Exon_count : 3 Overlapped_tx_length : 5244 Overlapped_CDS_length : 1137 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122203708 Intersect_end : 122208952 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PRR13Gene_name : PRR13; LOEUF_bin : 8 GnomAD_pLI : 1.3585e-02 ExAC_pLI : 6.3433e-01 HI : . TS : . DDD_HI_percent : 70.96 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 1.43834743248902 ExAC_misZ : 1.35982089683062 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 54458 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_018457 Tx_version : 4 Tx_start : 53441733 Tx_end : 53446638 Exon_count : 4 Overlapped_tx_length : 4905 Overlapped_CDS_length : 447 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53441733 Intersect_end : 53446638 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C3Gene_name : OR6C3; LOEUF_bin : 8 GnomAD_pLI : 3.0733e-03 ExAC_pLI : 1.2312e-04 HI : . TS : . DDD_HI_percent : 79.91 ACMG : . ExAC_cnvZ : -0.487554705093517 ExAC_delZ : 1.10289135235701 ExAC_dupZ : -1.09671987585536 ExAC_synZ : -1.83398365134245 ExAC_misZ : -2.43656681254489 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 254786 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_054104 Tx_version : 2 Tx_start : 55330042 Tx_end : 55332636 Exon_count : 2 Overlapped_tx_length : 2594 Overlapped_CDS_length : 936 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55330042 Intersect_end : 55332636 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
C12orf54Gene_name : C12orf54; LOEUF_bin : 8 GnomAD_pLI : 1.1347e-07 ExAC_pLI : 4.1674e-03 HI : . TS : . DDD_HI_percent : 87.79 ACMG : . ExAC_cnvZ : 1.21364820483769 ExAC_delZ : 0.750314050110253 ExAC_dupZ : 1.04235556192145 ExAC_synZ : -0.379097243082263 ExAC_misZ : -0.515830681522921 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121273 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_017018796 Tx_version : 2 Tx_start : 48413153 Tx_end : 48496524 Exon_count : 13 Overlapped_tx_length : 83371 Overlapped_CDS_length : 402 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48413153 Intersect_end : 48496524 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C76Gene_name : OR6C76; LOEUF_bin : 8 GnomAD_pLI : 2.3904e-03 ExAC_pLI : 1.0218e-03 HI : . TS : . DDD_HI_percent : 84.48 ACMG : . ExAC_cnvZ : 0.309167171553086 ExAC_delZ : 0.573263045982698 ExAC_dupZ : 0.0230923146005234 ExAC_synZ : -1.3196031913276 ExAC_misZ : -0.380282448060739 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 390326 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005183 Tx_version : 1 Tx_start : 55426253 Tx_end : 55427192 Exon_count : 1 Overlapped_tx_length : 939 Overlapped_CDS_length : 939 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55426253 Intersect_end : 55427192 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:55424170-55432139 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GPR84Gene_name : GPR84; LOEUF_bin : 8 GnomAD_pLI : 3.2998e-09 ExAC_pLI : 2.7221e-07 HI : . TS : . DDD_HI_percent : 52.56 ACMG : . ExAC_cnvZ : 0.897876715040533 ExAC_delZ : 0.577522803394942 ExAC_dupZ : 0.751470949646872 ExAC_synZ : -0.375315961298194 ExAC_misZ : -0.111972264734366 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 53831 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_020370 Tx_version : 3 Tx_start : 54362444 Tx_end : 54364486 Exon_count : 2 Overlapped_tx_length : 2042 Overlapped_CDS_length : 1191 Overlapped_CDS_percent : 99 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54362444 Intersect_end : 54364486 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATXN7L3BGene_name : ATXN7L3B; LOEUF_bin : 8 GnomAD_pLI : 1.4683e-01 ExAC_pLI : 9.7961e-02 HI : . TS : . DDD_HI_percent : 58.5 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.503226721639283 ExAC_misZ : 0.429011175493995 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 552889 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_001136262 Tx_version : 2 Tx_start : 74537834 Tx_end : 74545430 Exon_count : 1 Overlapped_tx_length : 7596 Overlapped_CDS_length : 294 Overlapped_CDS_percent : 4 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 74537834 Intersect_end : 74545430 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PLEKHG7Gene_name : PLEKHG7; LOEUF_bin : 8 GnomAD_pLI : 1.8917e-19 ExAC_pLI : 3.6750e-11 HI : . TS : . DDD_HI_percent : 59.79 ACMG : . ExAC_cnvZ : 0.405167761980724 ExAC_delZ : 1.03523039938074 ExAC_dupZ : -0.0335765387580131 ExAC_synZ : 0.125263737516639 ExAC_misZ : -0.957601706748908 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 440107 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : 5'UTR-3'UTR Tx : XM_047428867 Tx_version : 1 Tx_start : 92703283 Tx_end : 92772455 Exon_count : 17 Overlapped_tx_length : 69172 Overlapped_CDS_length : 2298 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92703283 Intersect_end : 92772455 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RASSF3Gene_name : RASSF3; LOEUF_bin : 8 GnomAD_pLI : 1.7804e-05 ExAC_pLI : 1.5979e-03 HI : . TS : . DDD_HI_percent : 57.64 ACMG : . ExAC_cnvZ : -0.413278768268237 ExAC_delZ : 0.547771486925727 ExAC_dupZ : -0.806529699041781 ExAC_synZ : -0.144530728827755 ExAC_misZ : -0.475477615651073 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283349 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : 5'UTR-3'UTR Tx : XM_047428711 Tx_version : 1 Tx_start : 64507190 Tx_end : 64697564 Exon_count : 6 Overlapped_tx_length : 190374 Overlapped_CDS_length : 855 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64507190 Intersect_end : 64697564 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TRIAP1Gene_name : TRIAP1; LOEUF_bin : 8 GnomAD_pLI : 5.6508e-02 ExAC_pLI : 5.9022e-01 HI : . TS : . DDD_HI_percent : 13.44 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : 0.607198266351635 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.771745164178418 ExAC_misZ : 1.11299622460478 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51499 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_016399 Tx_version : 3 Tx_start : 120443963 Tx_end : 120446384 Exon_count : 2 Overlapped_tx_length : 2421 Overlapped_CDS_length : 231 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120443963 Intersect_end : 120446384 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
C12orf56Gene_name : C12orf56; LOEUF_bin : 8 GnomAD_pLI : 6.8904e-16 ExAC_pLI : 2.9093e-11 HI : . TS : . DDD_HI_percent : 67.57 ACMG : . ExAC_cnvZ : 0.373915663148209 ExAC_delZ : 0.504457765648901 ExAC_dupZ : 0.156019324756628 ExAC_synZ : 0.292977837680856 ExAC_misZ : 0.0533227387732975 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 115749 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : 5'UTR-3'UTR Tx : NM_001170633 Tx_version : 2 Tx_start : 64264761 Tx_end : 64390758 Exon_count : 13 Overlapped_tx_length : 125997 Overlapped_CDS_length : 1869 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64264761 Intersect_end : 64390758 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
THAP2Gene_name : THAP2; LOEUF_bin : 8 GnomAD_pLI : 1.5504e-07 ExAC_pLI : 5.1653e-05 HI : . TS : . DDD_HI_percent : 23.62 ACMG : . ExAC_cnvZ : 0.537228391979607 ExAC_delZ : 0.170696654091575 ExAC_dupZ : 0.578776018524571 ExAC_synZ : 1.49692523159972 ExAC_misZ : -0.141510875083072 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 83591 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : 5'UTR-3'UTR Tx : NM_031435 Tx_version : 4 Tx_start : 71664300 Tx_end : 71680644 Exon_count : 3 Overlapped_tx_length : 16344 Overlapped_CDS_length : 687 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71664300 Intersect_end : 71680644 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OASLGene_name : OASL; LOEUF_bin : 8 GnomAD_pLI : 2.7573e-11 ExAC_pLI : 5.0729e-12 HI : . TS : . DDD_HI_percent : 77.14 ACMG : . ExAC_cnvZ : -0.0695677258789631 ExAC_delZ : 0.51618591727381 ExAC_dupZ : -0.380389941729259 ExAC_synZ : 0.398429587309712 ExAC_misZ : -0.686856045081505 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8638 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_003733 Tx_version : 4 Tx_start : 121019110 Tx_end : 121039246 Exon_count : 6 Overlapped_tx_length : 20136 Overlapped_CDS_length : 1545 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121019110 Intersect_end : 121039246 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DNAJC22Gene_name : DNAJC22; LOEUF_bin : 8 GnomAD_pLI : 2.9031e-06 ExAC_pLI : 1.1078e-05 HI : . TS : . DDD_HI_percent : 41.7 ACMG : . ExAC_cnvZ : 0.59214592191512 ExAC_delZ : 0.778674638720046 ExAC_dupZ : 0.343084505774134 ExAC_synZ : -1.17611611597495 ExAC_misZ : -1.36530763474633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79962 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001304944 Tx_version : 2 Tx_start : 49346887 Tx_end : 49353690 Exon_count : 4 Overlapped_tx_length : 6803 Overlapped_CDS_length : 1026 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49346887 Intersect_end : 49353690 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : NM_001286215 Tx_version : 2 Tx_start : 113185720 Tx_end : 113192368 Exon_count : 3 Overlapped_tx_length : 6648 Overlapped_CDS_length : 882 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113185720 Intersect_end : 113192368 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RPL41Gene_name : RPL41; LOEUF_bin : 8 GnomAD_pLI : 1.8377e-01 ExAC_pLI : 4.1530e-02 HI : . TS : . DDD_HI_percent : 17.94 ACMG : . ExAC_cnvZ : 0.521796450770897 ExAC_delZ : 0.10849618840624 ExAC_dupZ : 0.589838106649493 ExAC_synZ : -0.0862186672729318 ExAC_misZ : 0.552716741133633 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6171 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001035267 Tx_version : 2 Tx_start : 56116632 Tx_end : 56117967 Exon_count : 3 Overlapped_tx_length : 1335 Overlapped_CDS_length : 78 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56116632 Intersect_end : 56117967 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
POP5Gene_name : POP5; LOEUF_bin : 8 GnomAD_pLI : 4.1420e-07 ExAC_pLI : 1.2800e-05 HI : . TS : . DDD_HI_percent : 30.23 ACMG : . ExAC_cnvZ : 0.512392109561881 ExAC_delZ : 0.104528499636073 ExAC_dupZ : 0.580502230144457 ExAC_synZ : 0.983416309041938 ExAC_misZ : 1.12357493953226 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51367 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_011538441 Tx_version : 2 Tx_start : 120578763 Tx_end : 120581402 Exon_count : 5 Overlapped_tx_length : 2639 Overlapped_CDS_length : 546 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120578763 Intersect_end : 120581402 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT82Gene_name : KRT82; LOEUF_bin : 8 GnomAD_pLI : 4.6454e-18 ExAC_pLI : 2.6120e-16 HI : . TS : . DDD_HI_percent : 59.86 ACMG : . ExAC_cnvZ : 0.76392688213059 ExAC_delZ : 0.35937399577917 ExAC_dupZ : 0.835584614784939 ExAC_synZ : -1.50356124332495 ExAC_misZ : -1.00202591005443 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3888 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_033033 Tx_version : 4 Tx_start : 52393930 Tx_end : 52406335 Exon_count : 9 Overlapped_tx_length : 12405 Overlapped_CDS_length : 1542 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52393930 Intersect_end : 52406335 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LACRTGene_name : LACRT; LOEUF_bin : 8 GnomAD_pLI : 1.1870e-04 ExAC_pLI : 8.8785e-05 HI : . TS : . DDD_HI_percent : 99.86 ACMG : . ExAC_cnvZ : 1.27700296782339 ExAC_delZ : 1.17151266899092 ExAC_dupZ : 0.971164666133629 ExAC_synZ : -0.106455360888759 ExAC_misZ : -1.21408570310779 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 90070 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_033277 Tx_version : 2 Tx_start : 54630810 Tx_end : 54634895 Exon_count : 5 Overlapped_tx_length : 4085 Overlapped_CDS_length : 417 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54630810 Intersect_end : 54634895 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CSRP2Gene_name : CSRP2; LOEUF_bin : 8 GnomAD_pLI : 4.7690e-07 ExAC_pLI : 3.0523e-04 HI : . TS : . DDD_HI_percent : 31.53 ACMG : . ExAC_cnvZ : 0.586375305040214 ExAC_delZ : 0.431671002792048 ExAC_dupZ : 0.417802829724513 ExAC_synZ : -0.633753401116468 ExAC_misZ : 0.454524037766343 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 1466 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : 5'UTR-3'UTR Tx : NM_001413539 Tx_version : 1 Tx_start : 76858708 Tx_end : 76879019 Exon_count : 7 Overlapped_tx_length : 20311 Overlapped_CDS_length : 732 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76858708 Intersect_end : 76879019 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C75Gene_name : OR6C75; LOEUF_bin : 8 GnomAD_pLI : 1.8817e-02 ExAC_pLI : 4.8478e-02 HI : . TS : . DDD_HI_percent : 70.11 ACMG : . ExAC_cnvZ : 0.400542979167244 ExAC_delZ : 0.665895794097513 ExAC_dupZ : 0.102499365408615 ExAC_synZ : -1.2223177347198 ExAC_misZ : -0.60671975440715 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 390323 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005497 Tx_version : 2 Tx_start : 55362974 Tx_end : 55369279 Exon_count : 3 Overlapped_tx_length : 6305 Overlapped_CDS_length : 939 Overlapped_CDS_percent : 22 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55362974 Intersect_end : 55369279 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MUCL1Gene_name : MUCL1; LOEUF_bin : 9 GnomAD_pLI : 3.0923e-05 ExAC_pLI : 1.1481e-05 HI : . TS : . DDD_HI_percent : 99.98 ACMG : . ExAC_cnvZ : 0.640018275728697 ExAC_delZ : 0.483210143093239 ExAC_dupZ : 0.461047335723869 ExAC_synZ : -0.732839355804729 ExAC_misZ : -1.43648013293992 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 118430 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : XM_047428272 Tx_version : 1 Tx_start : 54830680 Tx_end : 54858387 Exon_count : 5 Overlapped_tx_length : 27707 Overlapped_CDS_length : 273 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54830680 Intersect_end : 54858387 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C65Gene_name : OR6C65; LOEUF_bin : 9 GnomAD_pLI : 1.7684e-05 ExAC_pLI : 1.0615e-03 HI : . TS : . DDD_HI_percent : 88.7 ACMG : . ExAC_cnvZ : 0.544222897249937 ExAC_delZ : 0.839800576790351 ExAC_dupZ : 0.201658528984422 ExAC_synZ : -1.56110883411206 ExAC_misZ : -1.40405614964885 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 403282 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005518 Tx_version : 1 Tx_start : 55400528 Tx_end : 55401467 Exon_count : 1 Overlapped_tx_length : 939 Overlapped_CDS_length : 939 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55400528 Intersect_end : 55401467 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C68Gene_name : OR6C68; LOEUF_bin : 9 GnomAD_pLI : 1.3380e-02 ExAC_pLI : 1.2342e-04 HI : . TS : . DDD_HI_percent : 91.63 ACMG : . ExAC_cnvZ : 0.206016897103506 ExAC_delZ : 0.47942415425357 ExAC_dupZ : -0.0723802142436496 ExAC_synZ : -1.62727222739858 ExAC_misZ : -2.34436994233472 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 403284 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005519 Tx_version : 2 Tx_start : 55492377 Tx_end : 55493316 Exon_count : 1 Overlapped_tx_length : 939 Overlapped_CDS_length : 939 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55492377 Intersect_end : 55493316 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TSPAN19Gene_name : TSPAN19; LOEUF_bin : 9 GnomAD_pLI : 1.9829e-12 ExAC_pLI : 2.6377e-09 HI : . TS : . DDD_HI_percent : 72.68 ACMG : . ExAC_cnvZ : 0.404637612099548 ExAC_delZ : 0.0383670969185104 ExAC_dupZ : 0.471816252451988 ExAC_synZ : 0.146217353513628 ExAC_misZ : -1.21950768529035 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144448 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : 5'UTR-3'UTR Tx : NM_001100917 Tx_version : 2 Tx_start : 85014316 Tx_end : 85036277 Exon_count : 9 Overlapped_tx_length : 21961 Overlapped_CDS_length : 747 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 85014316 Intersect_end : 85036277 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
NPFFGene_name : NPFF; LOEUF_bin : 9 GnomAD_pLI : 3.6460e-05 ExAC_pLI : 2.5370e-04 HI : . TS : . DDD_HI_percent : 74.13 ACMG : . ExAC_cnvZ : 0.991001828751079 ExAC_delZ : 0.531028154786202 ExAC_dupZ : 0.870708135019265 ExAC_synZ : 0.656151312514787 ExAC_misZ : 0.0881891190837327 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8620 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001320296 Tx_version : 2 Tx_start : 53506687 Tx_end : 53507484 Exon_count : 2 Overlapped_tx_length : 797 Overlapped_CDS_length : 351 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53506687 Intersect_end : 53507484 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C70Gene_name : OR6C70; LOEUF_bin : 9 GnomAD_pLI : 4.9830e-07 ExAC_pLI : 1.4101e-05 HI : . TS : . DDD_HI_percent : 86.95 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -1.06698808761639 ExAC_misZ : -2.62308323308682 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 390327 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005499 Tx_version : 1 Tx_start : 55469199 Tx_end : 55470138 Exon_count : 1 Overlapped_tx_length : 939 Overlapped_CDS_length : 939 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55469199 Intersect_end : 55470138 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:55459386-55474158 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ASCL4Gene_name : ASCL4; LOEUF_bin : 9 GnomAD_pLI : 1.6311e-03 ExAC_pLI : 2.4741e-01 HI : . TS : . DDD_HI_percent : 79.76 ACMG : . ExAC_cnvZ : 0.503969749065832 ExAC_delZ : 0.101140820700674 ExAC_dupZ : 0.496611817193642 ExAC_synZ : 1.09992846596385 ExAC_misZ : 1.49269528381158 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121549 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_203436 Tx_version : 3 Tx_start : 107774703 Tx_end : 107776644 Exon_count : 1 Overlapped_tx_length : 1941 Overlapped_CDS_length : 519 Overlapped_CDS_percent : 36 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107774703 Intersect_end : 107776644 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR6C4Gene_name : OR6C4; LOEUF_bin : 9 GnomAD_pLI : 5.6330e-09 ExAC_pLI : 1.1024e-07 HI : . TS : . DDD_HI_percent : 73.47 ACMG : . ExAC_cnvZ : 0.635435832448843 ExAC_delZ : 0.922710034537399 ExAC_dupZ : 0.295685103024938 ExAC_synZ : -2.221967126736 ExAC_misZ : -3.55986406808693 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 341418 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005494 Tx_version : 2 Tx_start : 55549601 Tx_end : 55555832 Exon_count : 2 Overlapped_tx_length : 6231 Overlapped_CDS_length : 930 Overlapped_CDS_percent : 20 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55549601 Intersect_end : 55555832 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : 5'UTR-3'UTR Tx : NM_003806 Tx_version : 4 Tx_start : 116856143 Tx_end : 116881441 Exon_count : 2 Overlapped_tx_length : 25298 Overlapped_CDS_length : 276 Overlapped_CDS_percent : 67 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116856143 Intersect_end : 116881441 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR8S1Gene_name : OR8S1; LOEUF_bin : 9 GnomAD_pLI : 1.4449e-06 ExAC_pLI : 3.0816e-06 HI : . TS : . DDD_HI_percent : 84.26 ACMG : . ExAC_cnvZ : 0.627097471780243 ExAC_delZ : 0.198236434135173 ExAC_dupZ : 0.567599050301572 ExAC_synZ : -0.242653315729308 ExAC_misZ : -1.01807120838812 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 341568 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001390849 Tx_version : 1 Tx_start : 48525631 Tx_end : 48526570 Exon_count : 1 Overlapped_tx_length : 939 Overlapped_CDS_length : 939 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48525631 Intersect_end : 48526570 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OGFOD2Gene_name : OGFOD2; LOEUF_bin : 9 GnomAD_pLI : 3.4370e-12 ExAC_pLI : 3.8051e-07 HI : . TS : . DDD_HI_percent : 66.94 ACMG : . ExAC_cnvZ : -0.152101190639159 ExAC_delZ : 0.208233841472354 ExAC_dupZ : -0.33948214024003 ExAC_synZ : -0.829151704343638 ExAC_misZ : -1.29905784553756 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79676 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001304833 Tx_version : 2 Tx_start : 122975243 Tx_end : 122980042 Exon_count : 7 Overlapped_tx_length : 4799 Overlapped_CDS_length : 1053 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122975243 Intersect_end : 122980042 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
C12orf76Gene_name : C12orf76; LOEUF_bin : 9 GnomAD_pLI : 9.8749e-07 ExAC_pLI : 1.0130e-04 HI : . TS : . DDD_HI_percent : 83.86 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.809314421126936 ExAC_misZ : 0.0436775309564617 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 400073 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : 5'UTR-3'UTR Tx : NM_001389625 Tx_version : 1 Tx_start : 110041176 Tx_end : 110048522 Exon_count : 2 Overlapped_tx_length : 7346 Overlapped_CDS_length : 219 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110041176 Intersect_end : 110048522 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SIRT4Gene_name : SIRT4; LOEUF_bin : 9 GnomAD_pLI : 6.8625e-10 ExAC_pLI : 1.8068e-07 HI : . TS : . DDD_HI_percent : 49.14 ACMG : . ExAC_cnvZ : -0.0544232847742176 ExAC_delZ : -0.848129232601671 ExAC_dupZ : 0.484754391995059 ExAC_synZ : -0.169777229805133 ExAC_misZ : 0.568495181793939 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23409 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23-q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001385733 Tx_version : 1 Tx_start : 120291779 Tx_end : 120313249 Exon_count : 4 Overlapped_tx_length : 21470 Overlapped_CDS_length : 945 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120291779 Intersect_end : 120313249 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR2AP1Gene_name : OR2AP1; LOEUF_bin : 9 GnomAD_pLI : 2.9797e-05 ExAC_pLI : 2.9039e-03 HI : . TS : . DDD_HI_percent : 83.6 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -1.92439157321042 ExAC_misZ : -2.65039501455441 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 121129 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001258285 Tx_version : 2 Tx_start : 55572467 Tx_end : 55575612 Exon_count : 2 Overlapped_tx_length : 3145 Overlapped_CDS_length : 930 Overlapped_CDS_percent : 77 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55572467 Intersect_end : 55575612 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:55556444-55607510; chr12:55562901-55579547 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CLLU1Gene_name : CLLU1; LOEUF_bin : 9 GnomAD_pLI : 1.6736e-03 ExAC_pLI : 4.1368e-02 HI : . TS : . DDD_HI_percent : 95.02 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -1.12411321120035 ExAC_misZ : -2.09539772640903 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 574028 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_027932 Tx_version : 1 Tx_start : 92421530 Tx_end : 92431002 Exon_count : 3 Overlapped_tx_length : 9472 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92421530 Intersect_end : 92431002 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
OR9K2Gene_name : OR9K2; LOEUF_bin : 9 GnomAD_pLI : 5.3659e-07 ExAC_pLI : 9.7525e-05 HI : . TS : . DDD_HI_percent : 69.96 ACMG : . ExAC_cnvZ : 0.3518222892863 ExAC_delZ : 0.351163345666802 ExAC_dupZ : 0.257538597715124 ExAC_synZ : -1.03448391835436 ExAC_misZ : -2.15797918815158 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 441639 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_001005243 Tx_version : 2 Tx_start : 55126405 Tx_end : 55132750 Exon_count : 3 Overlapped_tx_length : 6345 Overlapped_CDS_length : 942 Overlapped_CDS_percent : 32 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55126405 Intersect_end : 55132750 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PLA2G1BGene_name : PLA2G1B; LOEUF_bin : 9 GnomAD_pLI : 1.0057e-10 ExAC_pLI : 3.6489e-11 HI : . TS : . DDD_HI_percent : 42.04 ACMG : . ExAC_cnvZ : 0.671124065959008 ExAC_delZ : 0.121518870907138 ExAC_dupZ : 0.918941163777411 ExAC_synZ : 0.249477294832961 ExAC_misZ : -0.47284530028039 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5319 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_000928 Tx_version : 3 Tx_start : 120322114 Tx_end : 120327779 Exon_count : 4 Overlapped_tx_length : 5665 Overlapped_CDS_length : 447 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120322114 Intersect_end : 120327779 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
IQCDGene_name : IQCD; LOEUF_bin : 9 GnomAD_pLI : 1.7712e-09 ExAC_pLI : 7.6642e-06 HI : . TS : . DDD_HI_percent : 88.74 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.132454763867369 ExAC_misZ : -0.166801845834783 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 115811 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : XM_047428258 Tx_version : 1 Tx_start : 113195445 Tx_end : 113221094 Exon_count : 5 Overlapped_tx_length : 25649 Overlapped_CDS_length : 1422 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113195445 Intersect_end : 113221094 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DNAH10OSGene_name : DNAH10OS; LOEUF_bin : 9 GnomAD_pLI : 1.7857e-04 ExAC_pLI : 1.3366e-02 HI : . TS : . DDD_HI_percent : 99.64 ACMG : . ExAC_cnvZ : 0.647964626337371 ExAC_delZ : 0.155295961190427 ExAC_dupZ : 0.61672637584191 ExAC_synZ : -0.347631109367678 ExAC_misZ : -0.810453657258457 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 642797 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_187476 Tx_version : 1 Tx_start : 123927054 Tx_end : 123934984 Exon_count : 2 Overlapped_tx_length : 7930 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123927054 Intersect_end : 123934984 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HIGD1CGene_name : HIGD1C; LOEUF_bin : 9 GnomAD_pLI : 3.9609e-04 ExAC_pLI : 2.4200e-05 HI : . TS : . DDD_HI_percent : 59.5 ACMG : . ExAC_cnvZ : 0.292303520980711 ExAC_delZ : -0.318988666297098 ExAC_dupZ : 0.617710851345721 ExAC_synZ : 0.705815276751839 ExAC_misZ : -0.4656593338213 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 613227 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : XM_017019783 Tx_version : 3 Tx_start : 50931109 Tx_end : 50972592 Exon_count : 6 Overlapped_tx_length : 41483 Overlapped_CDS_length : 477 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50931109 Intersect_end : 50972592 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ANKRD33Gene_name : ANKRD33; LOEUF_bin : 9 GnomAD_pLI : 1.4957e-17 ExAC_pLI : 1.9618e-14 HI : . TS : . DDD_HI_percent : 73.52 ACMG : . ExAC_cnvZ : -0.8210085612154 ExAC_delZ : 0.214808937812226 ExAC_dupZ : -1.15382181817627 ExAC_synZ : -0.783852575142604 ExAC_misZ : -0.472627160617977 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 341405 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_047428784 Tx_version : 1 Tx_start : 51888115 Tx_end : 51891727 Exon_count : 5 Overlapped_tx_length : 3612 Overlapped_CDS_length : 1416 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51888115 Intersect_end : 51891727 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HCAR3Gene_name : HCAR3; LOEUF_bin : 9 GnomAD_pLI : 7.8636e-08 ExAC_pLI : 6.9312e-06 HI : . TS : . DDD_HI_percent : 83.51 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.757229752956602 ExAC_misZ : 2.12884889041024 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8843 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_006018 Tx_version : 3 Tx_start : 122714755 Tx_end : 122716811 Exon_count : 1 Overlapped_tx_length : 2056 Overlapped_CDS_length : 1164 Overlapped_CDS_percent : 94 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122714755 Intersect_end : 122716811 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:122702434-122717012; chr12:122705237-122718620 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
C12orf42Gene_name : C12orf42; LOEUF_bin : 9 GnomAD_pLI : 2.7519e-10 ExAC_pLI : 2.2928e-07 HI : . TS : . DDD_HI_percent : 89.17 ACMG : . ExAC_cnvZ : 0.740620211616851 ExAC_delZ : 0.294191047816684 ExAC_dupZ : 0.652686761217463 ExAC_synZ : -0.752679085934934 ExAC_misZ : -1.49759170133022 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 374470 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2-q23.3 Location2 : 5'UTR-3'UTR Tx : XM_047428802 Tx_version : 1 Tx_start : 103301954 Tx_end : 103525246 Exon_count : 7 Overlapped_tx_length : 223292 Overlapped_CDS_length : 1140 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103301954 Intersect_end : 103525246 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02414Gene_name : LINC02414; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370085 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_146868 Tx_version : 1 Tx_start : 131645917 Tx_end : 131648121 Exon_count : 2 Overlapped_tx_length : 2204 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131645917 Intersect_end : 131648121 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:40122; dbVar; esv2658223; gnomAD-SV_v3_DE[...]B_loss_source : DDD:40122; dbVar; esv2658223; gnomAD-SV_v3_DEL_chr12_74698058 B_loss_coord : chr12:131629455-131652855; 12:131645301-131653247; chr12:131645455-131653155; 12:131645457-131653055; chr12:131645728-131653000 B_loss_AFmax : 0.2611 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ADGRD1-AS1Gene_name : ADGRD1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105755954 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_131950 Tx_version : 1 Tx_start : 130990625 Tx_end : 130993976 Exon_count : 3 Overlapped_tx_length : 3351 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130990625 Intersect_end : 130993976 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02350Gene_name : LINC02350; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370059 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_146291 Tx_version : 1 Tx_start : 126426145 Tx_end : 126434227 Exon_count : 3 Overlapped_tx_length : 8082 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126426145 Intersect_end : 126434227 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126376969-126454930; chr12:126421201-126510243 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ANP32DGene_name : ANP32D; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : 1.4794e-01 HI : . TS : . DDD_HI_percent : 94.2 ACMG : . ExAC_cnvZ : 1.22097995991124 ExAC_delZ : 0.843952676253296 ExAC_dupZ : 1.00190796978912 ExAC_synZ : -2.02442608468347 ExAC_misZ : -2.11033204740966 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23519 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_012404 Tx_version : 3 Tx_start : 48472558 Tx_end : 48473622 Exon_count : 1 Overlapped_tx_length : 1064 Overlapped_CDS_length : 396 Overlapped_CDS_percent : 41 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48472558 Intersect_end : 48473622 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01779Gene_name : LINC01779; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 107985190 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_186584 Tx_version : 1 Tx_start : 40223075 Tx_end : 40224903 Exon_count : 1 Overlapped_tx_length : 1828 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40223075 Intersect_end : 40224903 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_132753 Tx_version : 1 Tx_start : 50456570 Tx_end : 50456786 Exon_count : 1 Overlapped_tx_length : 216 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50456570 Intersect_end : 50456786 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_146088 Tx_version : 1 Tx_start : 52250543 Tx_end : 52258508 Exon_count : 9 Overlapped_tx_length : 7965 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52250543 Intersect_end : 52258508 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_037470 Tx_version : 1 Tx_start : 123536408 Tx_end : 123536534 Exon_count : 1 Overlapped_tx_length : 126 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123536408 Intersect_end : 123536534 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PCED1B-AS1Gene_name : PCED1B-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100233209 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_026544 Tx_version : 1 Tx_start : 47208419 Tx_end : 47216443 Exon_count : 3 Overlapped_tx_length : 8024 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47208419 Intersect_end : 47216443 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001386737 Tx_version : 1 Tx_start : 51813920 Tx_end : 51814925 Exon_count : 1 Overlapped_tx_length : 1005 Overlapped_CDS_length : 954 Overlapped_CDS_percent : 96 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51813920 Intersect_end : 51814925 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MIR9902-1Gene_name : MIR9902-1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 113218484 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_162094 Tx_version : 1 Tx_start : 122695906 Tx_end : 122695999 Exon_count : 1 Overlapped_tx_length : 93 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122695906 Intersect_end : 122695999 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_003137 Tx_version : 2 Tx_start : 120291762 Tx_end : 120291903 Exon_count : 1 Overlapped_tx_length : 141 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120291762 Intersect_end : 120291903 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : NR_146531 Tx_version : 1 Tx_start : 76259882 Tx_end : 76305969 Exon_count : 4 Overlapped_tx_length : 46087 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76259882 Intersect_end : 76305969 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02457Gene_name : LINC02457; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 107984439 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : XR_001749339 Tx_version : 3 Tx_start : 116515828 Tx_end : 116521914 Exon_count : 3 Overlapped_tx_length : 6086 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116515828 Intersect_end : 116521914 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_147178 Tx_version : 1 Tx_start : 48998346 Tx_end : 49019240 Exon_count : 3 Overlapped_tx_length : 20894 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48998346 Intersect_end : 49019240 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_186172 Tx_version : 1 Tx_start : 62482348 Tx_end : 62484942 Exon_count : 2 Overlapped_tx_length : 2594 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62482348 Intersect_end : 62484942 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02440Gene_name : LINC02440; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370015 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_183608 Tx_version : 1 Tx_start : 118773030 Tx_end : 118774605 Exon_count : 3 Overlapped_tx_length : 1575 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118773030 Intersect_end : 118774605 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_183426 Tx_version : 1 Tx_start : 120629610 Tx_end : 120640522 Exon_count : 2 Overlapped_tx_length : 10912 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120629610 Intersect_end : 120640522 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02410Gene_name : LINC02410; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369920 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_135016 Tx_version : 1 Tx_start : 95803096 Tx_end : 95823314 Exon_count : 2 Overlapped_tx_length : 20218 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95803096 Intersect_end : 95823314 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_029895 Tx_version : 1 Tx_start : 95308419 Tx_end : 95308513 Exon_count : 1 Overlapped_tx_length : 94 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95308419 Intersect_end : 95308513 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_106722 Tx_version : 1 Tx_start : 66023619 Tx_end : 66023726 Exon_count : 1 Overlapped_tx_length : 107 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66023619 Intersect_end : 66023726 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593; chr12:66023449-66026645 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_030753 Tx_version : 1 Tx_start : 54033949 Tx_end : 54034045 Exon_count : 1 Overlapped_tx_length : 96 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54033949 Intersect_end : 54034045 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_029847 Tx_version : 1 Tx_start : 57824608 Tx_end : 57824692 Exon_count : 1 Overlapped_tx_length : 84 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57824608 Intersect_end : 57824692 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02389Gene_name : LINC02389; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 400046 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_033988 Tx_version : 1 Tx_start : 64883773 Tx_end : 64977522 Exon_count : 3 Overlapped_tx_length : 93749 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64883773 Intersect_end : 64977522 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_047505 Tx_version : 1 Tx_start : 53995207 Tx_end : 53996785 Exon_count : 3 Overlapped_tx_length : 1578 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53995207 Intersect_end : 53996785 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SMUG1-AS1Gene_name : SMUG1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369776 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_007063321 Tx_version : 1 Tx_start : 54142601 Tx_end : 54152656 Exon_count : 2 Overlapped_tx_length : 10055 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54142601 Intersect_end : 54152656 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_106815 Tx_version : 1 Tx_start : 53056943 Tx_end : 53057012 Exon_count : 1 Overlapped_tx_length : 69 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53056943 Intersect_end : 53057012 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_186107 Tx_version : 1 Tx_start : 53746336 Tx_end : 53757007 Exon_count : 4 Overlapped_tx_length : 10671 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53746336 Intersect_end : 53757007 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_110375 Tx_version : 1 Tx_start : 125025442 Tx_end : 125027423 Exon_count : 1 Overlapped_tx_length : 1981 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125025442 Intersect_end : 125027423 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : NR_037515 Tx_version : 1 Tx_start : 64622508 Tx_end : 64622605 Exon_count : 1 Overlapped_tx_length : 97 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64622508 Intersect_end : 64622605 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PITPNM2-AS1Gene_name : PITPNM2-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507091 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_038290 Tx_version : 1 Tx_start : 123081383 Tx_end : 123084744 Exon_count : 3 Overlapped_tx_length : 3361 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123081383 Intersect_end : 123084744 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_146274 Tx_version : 1 Tx_start : 52245042 Tx_end : 52247448 Exon_count : 2 Overlapped_tx_length : 2406 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52245042 Intersect_end : 52247448 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02347Gene_name : LINC02347; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100128554 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_130748 Tx_version : 1 Tx_start : 126442480 Tx_end : 126472785 Exon_count : 12 Overlapped_tx_length : 30305 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126442480 Intersect_end : 126472785 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126421201-126510243 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02444Gene_name : LINC02444; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101928137 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : NR_110130 Tx_version : 1 Tx_start : 73159189 Tx_end : 73208317 Exon_count : 4 Overlapped_tx_length : 49128 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 73159189 Intersect_end : 73208317 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02424Gene_name : LINC02424; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369860 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : NR_135021 Tx_version : 1 Tx_start : 78326679 Tx_end : 78359746 Exon_count : 2 Overlapped_tx_length : 33067 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 78326679 Intersect_end : 78359746 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:78277506-78376367 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
C12orf75-AS1Gene_name : C12orf75-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369954 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_131986 Tx_version : 1 Tx_start : 105304866 Tx_end : 105327017 Exon_count : 3 Overlapped_tx_length : 22151 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105304866 Intersect_end : 105327017 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:105298255-105330287 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : NR_183514 Tx_version : 1 Tx_start : 55729093 Tx_end : 55730852 Exon_count : 2 Overlapped_tx_length : 1759 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55729093 Intersect_end : 55730852 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_027035 Tx_version : 1 Tx_start : 94460002 Tx_end : 94462570 Exon_count : 1 Overlapped_tx_length : 2568 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94460002 Intersect_end : 94462570 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_183518 Tx_version : 1 Tx_start : 58920703 Tx_end : 59130875 Exon_count : 6 Overlapped_tx_length : 210172 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58920703 Intersect_end : 59130875 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:59089723-59089722P_loss_coord : 12:59089723-59089722 P_loss_source : dbVar:nssv17976033 P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02451Gene_name : LINC02451; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369738 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_135027 Tx_version : 1 Tx_start : 42646582 Tx_end : 42686701 Exon_count : 5 Overlapped_tx_length : 40119 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42646582 Intersect_end : 42686701 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02426Gene_name : LINC02426; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101928449 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : NR_110089 Tx_version : 1 Tx_start : 81953718 Tx_end : 81993133 Exon_count : 3 Overlapped_tx_length : 39415 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 81953718 Intersect_end : 81993133 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01619Gene_name : LINC01619; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 256021 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : NR_046160 Tx_version : 2 Tx_start : 91984975 Tx_end : 92142831 Exon_count : 6 Overlapped_tx_length : 157856 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91984975 Intersect_end : 92142831 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : NR_162118 Tx_version : 1 Tx_start : 63823662 Tx_end : 63823727 Exon_count : 1 Overlapped_tx_length : 65 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 63823662 Intersect_end : 63823727 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_104124 Tx_version : 2 Tx_start : 67989446 Tx_end : 68026337 Exon_count : 5 Overlapped_tx_length : 36891 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67989446 Intersect_end : 68026337 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TUBA1B-AS1Gene_name : TUBA1B-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369760 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_183484 Tx_version : 1 Tx_start : 49131605 Tx_end : 49147863 Exon_count : 2 Overlapped_tx_length : 16258 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49131605 Intersect_end : 49147863 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FZD10-AS1Gene_name : FZD10-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 440119 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_033834 Tx_version : 1 Tx_start : 130151592 Tx_end : 130161678 Exon_count : 4 Overlapped_tx_length : 10086 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130151592 Intersect_end : 130161678 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_107039 Tx_version : 1 Tx_start : 123364763 Tx_end : 123364843 Exon_count : 1 Overlapped_tx_length : 80 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123364763 Intersect_end : 123364843 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01465Gene_name : LINC01465; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : 93.44 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283416 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_121682 Tx_version : 1 Tx_start : 62601750 Tx_end : 62603434 Exon_count : 1 Overlapped_tx_length : 1684 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62601750 Intersect_end : 62603434 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_001013699 Tx_version : 3 Tx_start : 31791184 Tx_end : 31792298 Exon_count : 1 Overlapped_tx_length : 1114 Overlapped_CDS_length : 408 Overlapped_CDS_percent : 75 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31791184 Intersect_end : 31792298 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02874Gene_name : LINC02874; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283403 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_164130 Tx_version : 1 Tx_start : 52204822 Tx_end : 52213583 Exon_count : 5 Overlapped_tx_length : 8761 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52204822 Intersect_end : 52213583 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
C12orf42-AS1Gene_name : C12orf42-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101929058 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_126333 Tx_version : 1 Tx_start : 103151841 Tx_end : 103168309 Exon_count : 7 Overlapped_tx_length : 16468 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103151841 Intersect_end : 103168309 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RACGAP1P1Gene_name : RACGAP1P1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 83956 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_026583 Tx_version : 1 Tx_start : 45062617 Tx_end : 45065411 Exon_count : 1 Overlapped_tx_length : 2794 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45062617 Intersect_end : 45065411 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_106760 Tx_version : 1 Tx_start : 48132796 Tx_end : 48132867 Exon_count : 1 Overlapped_tx_length : 71 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48132796 Intersect_end : 48132867 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HOXC13-ASGene_name : HOXC13-AS; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100874366 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_047507 Tx_version : 1 Tx_start : 53935327 Tx_end : 53939643 Exon_count : 3 Overlapped_tx_length : 4316 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53935327 Intersect_end : 53939643 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00939Gene_name : LINC00939; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 400084 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_034132 Tx_version : 1 Tx_start : 125958683 Tx_end : 125983374 Exon_count : 6 Overlapped_tx_length : 24691 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125958683 Intersect_end : 125983374 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : NR_039848 Tx_version : 1 Tx_start : 81158387 Tx_end : 81158461 Exon_count : 1 Overlapped_tx_length : 74 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 81158387 Intersect_end : 81158461 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02397Gene_name : LINC02397; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507616 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_144532 Tx_version : 1 Tx_start : 92466678 Tx_end : 92483947 Exon_count : 2 Overlapped_tx_length : 17269 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92466678 Intersect_end : 92483947 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02452Gene_name : LINC02452; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369924 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_945239 Tx_version : 3 Tx_start : 96161837 Tx_end : 96172480 Exon_count : 3 Overlapped_tx_length : 10643 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 96161837 Intersect_end : 96172480 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_152637 Tx_version : 3 Tx_start : 55681735 Tx_end : 55684611 Exon_count : 2 Overlapped_tx_length : 2876 Overlapped_CDS_length : 735 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55681735 Intersect_end : 55684611 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_186757 Tx_version : 1 Tx_start : 40141765 Tx_end : 40223822 Exon_count : 9 Overlapped_tx_length : 82057 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40141765 Intersect_end : 40223822 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02418Gene_name : LINC02418; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100190940 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_024457 Tx_version : 2 Tx_start : 130033811 Tx_end : 130042342 Exon_count : 3 Overlapped_tx_length : 8531 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130033811 Intersect_end : 130042342 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TRHDE-AS1Gene_name : TRHDE-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283392 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : NR_026837 Tx_version : 1 Tx_start : 72253506 Tx_end : 72273509 Exon_count : 2 Overlapped_tx_length : 20003 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 72253506 Intersect_end : 72273509 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CLIP1-AS1Gene_name : CLIP1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507066 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_045382 Tx_version : 1 Tx_start : 122395541 Tx_end : 122399944 Exon_count : 3 Overlapped_tx_length : 4403 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122395541 Intersect_end : 122399944 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001013635 Tx_version : 4 Tx_start : 48183643 Tx_end : 48185926 Exon_count : 1 Overlapped_tx_length : 2283 Overlapped_CDS_length : 585 Overlapped_CDS_percent : 32 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48183643 Intersect_end : 48185926 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MIR3913-2Gene_name : MIR3913-2; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100500868 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_037476 Tx_version : 1 Tx_start : 69584722 Tx_end : 69584822 Exon_count : 1 Overlapped_tx_length : 100 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69584722 Intersect_end : 69584822 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02422Gene_name : LINC02422; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369723 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : NR_135029 Tx_version : 1 Tx_start : 31876968 Tx_end : 31887203 Exon_count : 2 Overlapped_tx_length : 10235 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31876968 Intersect_end : 31887203 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_029894 Tx_version : 1 Tx_start : 54337215 Tx_end : 54337314 Exon_count : 1 Overlapped_tx_length : 99 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54337215 Intersect_end : 54337314 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_170321 Tx_version : 1 Tx_start : 52058749 Tx_end : 52059500 Exon_count : 2 Overlapped_tx_length : 751 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52058749 Intersect_end : 52059500 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MAPKAPK5-AS1Gene_name : MAPKAPK5-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51275 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : UTR Tx : NR_015404 Tx_version : 2 Tx_start : 111839766 Tx_end : 111843005 Exon_count : 2 Overlapped_tx_length : 3239 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111839766 Intersect_end : 111843005 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : NR_030348 Tx_version : 1 Tx_start : 80832532 Tx_end : 80832629 Exon_count : 1 Overlapped_tx_length : 97 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80832532 Intersect_end : 80832629 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_031589 Tx_version : 1 Tx_start : 119713633 Tx_end : 119713724 Exon_count : 1 Overlapped_tx_length : 91 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119713633 Intersect_end : 119713724 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02396Gene_name : LINC02396; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283332 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_026948 Tx_version : 1 Tx_start : 49908881 Tx_end : 49911863 Exon_count : 3 Overlapped_tx_length : 2982 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49908881 Intersect_end : 49911863 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02395Gene_name : LINC02395; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927292 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_110048 Tx_version : 1 Tx_start : 49911952 Tx_end : 49926339 Exon_count : 6 Overlapped_tx_length : 14387 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49911952 Intersect_end : 49926339 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HNF1A-AS1Gene_name : HNF1A-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283460 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_024345 Tx_version : 1 Tx_start : 120969837 Tx_end : 120972292 Exon_count : 1 Overlapped_tx_length : 2455 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120969837 Intersect_end : 120972292 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : NR_106921 Tx_version : 1 Tx_start : 112163257 Tx_end : 112163321 Exon_count : 1 Overlapped_tx_length : 64 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112163257 Intersect_end : 112163321 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DENND5B-AS1Gene_name : DENND5B-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100874249 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : NR_046909 Tx_version : 1 Tx_start : 31589922 Tx_end : 31615351 Exon_count : 3 Overlapped_tx_length : 25429 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31589922 Intersect_end : 31615351 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : NR_162123 Tx_version : 1 Tx_start : 86745067 Tx_end : 86745149 Exon_count : 1 Overlapped_tx_length : 82 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 86745067 Intersect_end : 86745149 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02412Gene_name : LINC02412; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 102724933 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_120492 Tx_version : 1 Tx_start : 93174365 Tx_end : 93181832 Exon_count : 3 Overlapped_tx_length : 7467 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93174365 Intersect_end : 93181832 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02456Gene_name : LINC02456; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369942 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007063427 Tx_version : 1 Tx_start : 102279573 Tx_end : 102711995 Exon_count : 13 Overlapped_tx_length : 432422 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102279573 Intersect_end : 102711995 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:102417491-102481839; 12:102419490-102480381P_loss_coord : 12:102417491-102481839; 12:102419490-102480381 P_loss_source : dbVar:nssv17975160; morbid:IGF1 P_loss_phen : Insulin-like growth factor I deficiency, 608747 (3) AR P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC26A10PGene_name : SLC26A10P; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 65012 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_166678 Tx_version : 1 Tx_start : 57619526 Tx_end : 57626151 Exon_count : 14 Overlapped_tx_length : 6625 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57619526 Intersect_end : 57626151 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
EEF1AKMT3Gene_name : EEF1AKMT3; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 25895 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_015433 Tx_version : 3 Tx_start : 57772613 Tx_end : 57782541 Exon_count : 3 Overlapped_tx_length : 9928 Overlapped_CDS_length : 681 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57772613 Intersect_end : 57782541 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001396061 Tx_version : 1 Tx_start : 48559881 Tx_end : 48562956 Exon_count : 2 Overlapped_tx_length : 3075 Overlapped_CDS_length : 936 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48559881 Intersect_end : 48562956 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02411Gene_name : LINC02411; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927637 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_120451 Tx_version : 1 Tx_start : 127631268 Tx_end : 127636467 Exon_count : 4 Overlapped_tx_length : 5199 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127631268 Intersect_end : 127636467 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_037487 Tx_version : 1 Tx_start : 104591632 Tx_end : 104591716 Exon_count : 1 Overlapped_tx_length : 84 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104591632 Intersect_end : 104591716 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02403Gene_name : LINC02403; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369785 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_135022 Tx_version : 1 Tx_start : 58087891 Tx_end : 58093362 Exon_count : 4 Overlapped_tx_length : 5471 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58087891 Intersect_end : 58093362 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01498Gene_name : LINC01498; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 102723562 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_120483 Tx_version : 1 Tx_start : 108459424 Tx_end : 108473689 Exon_count : 4 Overlapped_tx_length : 14265 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108459424 Intersect_end : 108473689 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_036632 Tx_version : 1 Tx_start : 100156390 Tx_end : 100173343 Exon_count : 10 Overlapped_tx_length : 16953 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100156390 Intersect_end : 100173343 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:100151299-100174084; chr12:100151576-100173964 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CRADD-AS1Gene_name : CRADD-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101928731 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_110092 Tx_version : 1 Tx_start : 93707790 Tx_end : 93737823 Exon_count : 3 Overlapped_tx_length : 30033 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93707790 Intersect_end : 93737823 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_037456 Tx_version : 1 Tx_start : 95309922 Tx_end : 95309984 Exon_count : 1 Overlapped_tx_length : 62 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95309922 Intersect_end : 95309984 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_036187 Tx_version : 1 Tx_start : 123010666 Tx_end : 123010728 Exon_count : 1 Overlapped_tx_length : 62 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123010666 Intersect_end : 123010728 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_001135811 Tx_version : 2 Tx_start : 31280583 Tx_end : 31326150 Exon_count : 7 Overlapped_tx_length : 45567 Overlapped_CDS_length : 666 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31280583 Intersect_end : 31326150 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : 5'UTR-3'UTR Tx : NM_001031748 Tx_version : 4 Tx_start : 39626182 Tx_end : 39721914 Exon_count : 13 Overlapped_tx_length : 95732 Overlapped_CDS_length : 1959 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39626182 Intersect_end : 39721914 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : 5'UTR-3'UTR Tx : NM_001009894 Tx_version : 3 Tx_start : 88035535 Tx_end : 88050160 Exon_count : 7 Overlapped_tx_length : 14625 Overlapped_CDS_length : 978 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88035535 Intersect_end : 88050160 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
19P_snvindel_nb : 19 P_snvindel_phen : Abnormal_facial_shape; Bardet-Biedl_syndrome_14; CEP290-Related_Disorders; Familial_aplasia_of_the_vermis; Global_developmental_delay; Hypotonia; Joubert_syndrome_5; Leber_congenital_amaurosis; Leber_congenital_amaurosis_10; Meckel-Gruber_syndrome; Meckel_syndrome,_type_4; Micrognathia; Nephronophthisis; Retinal_dystrophy; Rod-cone_dystrophy; Senior-Loken_syndrome_6 |
dbVarB_loss_source : dbVar B_loss_coord : chr12:88027812-88118905 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00173Gene_name : LINC00173; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100287569 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : NR_027346 Tx_version : 1 Tx_start : 116533434 Tx_end : 116536513 Exon_count : 3 Overlapped_tx_length : 3079 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116533434 Intersect_end : 116536513 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : NR_039718 Tx_version : 1 Tx_start : 109833347 Tx_end : 109833436 Exon_count : 1 Overlapped_tx_length : 89 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109833347 Intersect_end : 109833436 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : NR_036476 Tx_version : 1 Tx_start : 55829607 Tx_end : 55836246 Exon_count : 5 Overlapped_tx_length : 6639 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55829607 Intersect_end : 55836246 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02376Gene_name : LINC02376; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370065 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_146537 Tx_version : 1 Tx_start : 127274270 Tx_end : 127284283 Exon_count : 4 Overlapped_tx_length : 10013 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127274270 Intersect_end : 127284283 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126945957-127328431 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_120439 Tx_version : 1 Tx_start : 52084745 Tx_end : 52108319 Exon_count : 2 Overlapped_tx_length : 23574 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52084745 Intersect_end : 52108319 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC03056Gene_name : LINC03056; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 124902951 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : XR_007063345 Tx_version : 1 Tx_start : 63290130 Tx_end : 63373753 Exon_count : 2 Overlapped_tx_length : 83623 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 63290130 Intersect_end : 63373753 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02415Gene_name : LINC02415; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 107161159 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_135045 Tx_version : 1 Tx_start : 131296112 Tx_end : 131297972 Exon_count : 2 Overlapped_tx_length : 1860 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131296112 Intersect_end : 131297972 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:[...]B_loss_source : 1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:40088; dbVar; dgv29e203 B_loss_coord : chr12:131245620-131344309; 12:131245621-131344309; 12:131245689-131344294; chr12:131245692-131344294; 12:131245804-131340783; 12:131247400-131341210 B_loss_AFmax : 0.0120 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_125724 Tx_version : 1 Tx_start : 66130750 Tx_end : 66134449 Exon_count : 2 Overlapped_tx_length : 3699 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66130750 Intersect_end : 66134449 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:66130674-66161690 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MIRLET7IHGGene_name : MIRLET7IHG; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 120766144 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_186001 Tx_version : 1 Tx_start : 62602742 Tx_end : 62622214 Exon_count : 2 Overlapped_tx_length : 19472 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62602742 Intersect_end : 62622214 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_029617 Tx_version : 1 Tx_start : 53991737 Tx_end : 53991847 Exon_count : 1 Overlapped_tx_length : 110 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53991737 Intersect_end : 53991847 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_003015 Tx_version : 1 Tx_start : 98599634 Tx_end : 98599884 Exon_count : 1 Overlapped_tx_length : 250 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98599634 Intersect_end : 98599884 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : 5'UTR-3'UTR Tx : XM_024449189 Tx_version : 2 Tx_start : 116710170 Tx_end : 116738069 Exon_count : 5 Overlapped_tx_length : 27899 Overlapped_CDS_length : 621 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116710170 Intersect_end : 116738069 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00592Gene_name : LINC00592; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283404 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_027358 Tx_version : 2 Tx_start : 52210929 Tx_end : 52223880 Exon_count : 5 Overlapped_tx_length : 12951 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52210929 Intersect_end : 52223880 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02388Gene_name : LINC02388; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927653 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_120452 Tx_version : 1 Tx_start : 58565958 Tx_end : 58781716 Exon_count : 8 Overlapped_tx_length : 215758 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58565958 Intersect_end : 58781716 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02354Gene_name : LINC02354; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 107984503 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_007063292 Tx_version : 1 Tx_start : 47829156 Tx_end : 47840108 Exon_count : 3 Overlapped_tx_length : 10952 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47829156 Intersect_end : 47840108 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPFIA2-AS1Gene_name : PPFIA2-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 102724663 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : NR_120491 Tx_version : 1 Tx_start : 81279188 Tx_end : 81312422 Exon_count : 6 Overlapped_tx_length : 33234 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 81279188 Intersect_end : 81312422 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02425Gene_name : LINC02425; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369810 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_146530 Tx_version : 1 Tx_start : 66027724 Tx_end : 66031066 Exon_count : 3 Overlapped_tx_length : 3342 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66027724 Intersect_end : 66031066 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_106817 Tx_version : 1 Tx_start : 57748617 Tx_end : 57748682 Exon_count : 1 Overlapped_tx_length : 65 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57748617 Intersect_end : 57748682 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : NM_032345 Tx_version : 3 Tx_start : 55901412 Tx_end : 55927894 Exon_count : 3 Overlapped_tx_length : 26482 Overlapped_CDS_length : 615 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55901412 Intersect_end : 55927894 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : NR_030347 Tx_version : 1 Tx_start : 64622508 Tx_end : 64622605 Exon_count : 1 Overlapped_tx_length : 97 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64622508 Intersect_end : 64622605 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : 5'UTR-3'UTR Tx : NM_001135864 Tx_version : 2 Tx_start : 31647159 Tx_end : 31673114 Exon_count : 4 Overlapped_tx_length : 25955 Overlapped_CDS_length : 789 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31647159 Intersect_end : 31673114 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_183480 Tx_version : 1 Tx_start : 47706087 Tx_end : 47732351 Exon_count : 4 Overlapped_tx_length : 26264 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47706087 Intersect_end : 47732351 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02402Gene_name : LINC02402; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927058 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_110042 Tx_version : 1 Tx_start : 42615502 Tx_end : 42646498 Exon_count : 6 Overlapped_tx_length : 30996 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42615502 Intersect_end : 42646498 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RXYLT1-AS1Gene_name : RXYLT1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 104169670 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : NR_126167 Tx_version : 1 Tx_start : 63808844 Tx_end : 63822156 Exon_count : 4 Overlapped_tx_length : 13312 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 63808844 Intersect_end : 63822156 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SOCS2-AS1Gene_name : SOCS2-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144481 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_038263 Tx_version : 1 Tx_start : 93565627 Tx_end : 93571398 Exon_count : 4 Overlapped_tx_length : 5771 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93565627 Intersect_end : 93571398 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02420Gene_name : LINC02420; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 102724433 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_146500 Tx_version : 1 Tx_start : 67440997 Tx_end : 67442559 Exon_count : 2 Overlapped_tx_length : 1562 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67440997 Intersect_end : 67442559 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_186005 Tx_version : 1 Tx_start : 45050989 Tx_end : 45103107 Exon_count : 2 Overlapped_tx_length : 52118 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45050989 Intersect_end : 45103107 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02369Gene_name : LINC02369; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100996679 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_104647 Tx_version : 1 Tx_start : 128086981 Tx_end : 128118141 Exon_count : 5 Overlapped_tx_length : 31160 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128086981 Intersect_end : 128118141 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MIR4472-2Gene_name : MIR4472-2; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100616309 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : NR_039683 Tx_version : 1 Tx_start : 116428251 Tx_end : 116428318 Exon_count : 1 Overlapped_tx_length : 67 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116428251 Intersect_end : 116428318 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:116395173-116434665 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_038854 Tx_version : 1 Tx_start : 120490337 Tx_end : 120495946 Exon_count : 2 Overlapped_tx_length : 5609 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120490337 Intersect_end : 120495946 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00934Gene_name : LINC00934; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 144742 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_024246 Tx_version : 2 Tx_start : 119283824 Tx_end : 119303380 Exon_count : 4 Overlapped_tx_length : 19556 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119283824 Intersect_end : 119303380 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RAB35-AS1Gene_name : RAB35-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 127138862 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_182302 Tx_version : 1 Tx_start : 120116906 Tx_end : 120119003 Exon_count : 1 Overlapped_tx_length : 2097 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120116906 Intersect_end : 120119003 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02453Gene_name : LINC02453; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 643770 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_038383 Tx_version : 1 Tx_start : 98485543 Tx_end : 98503855 Exon_count : 4 Overlapped_tx_length : 18312 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98485543 Intersect_end : 98503855 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02409Gene_name : LINC02409; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369929 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_183610 Tx_version : 1 Tx_start : 97262163 Tx_end : 97275324 Exon_count : 6 Overlapped_tx_length : 13161 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97262163 Intersect_end : 97275324 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02471Gene_name : LINC02471; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369734 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_146526 Tx_version : 1 Tx_start : 40156238 Tx_end : 40167847 Exon_count : 2 Overlapped_tx_length : 11609 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40156238 Intersect_end : 40167847 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02963Gene_name : LINC02963; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 123706542 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.1 Location2 : UTR Tx : NR_185896 Tx_version : 1 Tx_start : 34191036 Tx_end : 34219211 Exon_count : 5 Overlapped_tx_length : 28175 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 34191036 Intersect_end : 34219211 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
esv2761043B_loss_source : esv2761043 B_loss_coord : 12:33141565-34701563 B_loss_AFmax : 0.0400 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_002968 Tx_version : 1 Tx_start : 48654381 Tx_end : 48654518 Exon_count : 1 Overlapped_tx_length : 137 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48654381 Intersect_end : 48654518 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : 5'UTR-3'UTR Tx : XM_011538327 Tx_version : 3 Tx_start : 113149723 Tx_end : 113158524 Exon_count : 7 Overlapped_tx_length : 8801 Overlapped_CDS_length : 966 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113149723 Intersect_end : 113158524 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TAMALIN-AS1Gene_name : TAMALIN-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 692159 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_146770 Tx_version : 1 Tx_start : 52006249 Tx_end : 52007655 Exon_count : 1 Overlapped_tx_length : 1406 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52006249 Intersect_end : 52007655 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_047504 Tx_version : 1 Tx_start : 53999021 Tx_end : 54000010 Exon_count : 2 Overlapped_tx_length : 989 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53999021 Intersect_end : 54000010 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02400Gene_name : LINC02400; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927038 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_135040 Tx_version : 1 Tx_start : 41764188 Tx_end : 41765581 Exon_count : 3 Overlapped_tx_length : 1393 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41764188 Intersect_end : 41765581 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:41756573-41765728 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CLLU1-AS1Gene_name : CLLU1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 574016 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_144319 Tx_version : 2 Tx_start : 92420085 Tx_end : 92432999 Exon_count : 3 Overlapped_tx_length : 12914 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92420085 Intersect_end : 92432999 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02156Gene_name : LINC02156; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 111082992 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_149087 Tx_version : 1 Tx_start : 47415007 Tx_end : 47420179 Exon_count : 2 Overlapped_tx_length : 5172 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47415007 Intersect_end : 47420179 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02825Gene_name : LINC02825; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283435 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_147498 Tx_version : 1 Tx_start : 126400791 Tx_end : 126449327 Exon_count : 4 Overlapped_tx_length : 48536 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126400791 Intersect_end : 126449327 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126376969-126454930 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : NR_031700 Tx_version : 1 Tx_start : 79419256 Tx_end : 79419321 Exon_count : 1 Overlapped_tx_length : 65 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 79419256 Intersect_end : 79419321 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : NR_030350 Tx_version : 1 Tx_start : 108836907 Tx_end : 108837006 Exon_count : 1 Overlapped_tx_length : 99 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108836907 Intersect_end : 108837006 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_039847 Tx_version : 1 Tx_start : 47187811 Tx_end : 47187891 Exon_count : 1 Overlapped_tx_length : 80 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47187811 Intersect_end : 47187891 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BLTP3B-DTGene_name : BLTP3B-DT; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 120766146 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_186018 Tx_version : 1 Tx_start : 100143054 Tx_end : 100144671 Exon_count : 2 Overlapped_tx_length : 1617 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100143054 Intersect_end : 100144671 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00615Gene_name : LINC00615; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 439916 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : NR_038868 Tx_version : 1 Tx_start : 90918022 Tx_end : 90948669 Exon_count : 5 Overlapped_tx_length : 30647 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 90918022 Intersect_end : 90948669 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_049885 Tx_version : 1 Tx_start : 94561788 Tx_end : 94561859 Exon_count : 1 Overlapped_tx_length : 71 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94561788 Intersect_end : 94561859 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_162090 Tx_version : 1 Tx_start : 52898888 Tx_end : 52898984 Exon_count : 1 Overlapped_tx_length : 96 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52898888 Intersect_end : 52898984 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02399Gene_name : LINC02399; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369891 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : NR_135019 Tx_version : 1 Tx_start : 89947692 Tx_end : 89949726 Exon_count : 3 Overlapped_tx_length : 2034 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89947692 Intersect_end : 89949726 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02461Gene_name : LINC02461; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369740 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_146866 Tx_version : 1 Tx_start : 43155314 Tx_end : 43163110 Exon_count : 4 Overlapped_tx_length : 7796 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 43155314 Intersect_end : 43163110 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02448Gene_name : LINC02448; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369792 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_945012 Tx_version : 3 Tx_start : 59520999 Tx_end : 59524152 Exon_count : 3 Overlapped_tx_length : 3153 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 59520999 Intersect_end : 59524152 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:59445875-60579362 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_014033 Tx_version : 4 Tx_start : 50925014 Tx_end : 50932508 Exon_count : 2 Overlapped_tx_length : 7494 Overlapped_CDS_length : 735 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50925014 Intersect_end : 50932508 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02359Gene_name : LINC02359; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927464 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_186740 Tx_version : 1 Tx_start : 126095963 Tx_end : 126176807 Exon_count : 10 Overlapped_tx_length : 80844 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126095963 Intersect_end : 126176807 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : UTR Tx : NR_106818 Tx_version : 1 Tx_start : 111304141 Tx_end : 111304209 Exon_count : 1 Overlapped_tx_length : 68 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111304141 Intersect_end : 111304209 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_033801 Tx_version : 1 Tx_start : 98453839 Tx_end : 98457145 Exon_count : 1 Overlapped_tx_length : 3306 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98453839 Intersect_end : 98457145 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_002737 Tx_version : 1 Tx_start : 56645026 Tx_end : 56645101 Exon_count : 1 Overlapped_tx_length : 75 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56645026 Intersect_end : 56645101 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02404Gene_name : LINC02404; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369900 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_945201 Tx_version : 2 Tx_start : 91875302 Tx_end : 91880667 Exon_count : 3 Overlapped_tx_length : 5365 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91875302 Intersect_end : 91880667 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_110591 Tx_version : 1 Tx_start : 49951511 Tx_end : 49962783 Exon_count : 3 Overlapped_tx_length : 11272 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49951511 Intersect_end : 49962783 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:49954146-49955618P_loss_coord : 12:49954146-49955618 P_loss_source : dbVar:nssv17172242 P_loss_phen : . P_loss_hpo : . |
15P_snvindel_nb : 15 P_snvindel_phen : Diabetes_insipidus,_nephrogenic,_autosomal; Nephrogenic_diabetes_insipidus; Palmoplantar_keratoderma,_Bothnian_type |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01486Gene_name : LINC01486; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101928138 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : NR_120462 Tx_version : 1 Tx_start : 109354186 Tx_end : 109359488 Exon_count : 3 Overlapped_tx_length : 5302 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109354186 Intersect_end : 109359488 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : 5'UTR-3'UTR Tx : NM_001300940 Tx_version : 2 Tx_start : 64186315 Tx_end : 64222296 Exon_count : 4 Overlapped_tx_length : 35981 Overlapped_CDS_length : 1407 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64186315 Intersect_end : 64222296 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_073494 Tx_version : 1 Tx_start : 68804436 Tx_end : 68805494 Exon_count : 1 Overlapped_tx_length : 1058 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68804436 Intersect_end : 68805494 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_181711 Tx_version : 4 Tx_start : 52006945 Tx_end : 52015889 Exon_count : 8 Overlapped_tx_length : 8944 Overlapped_CDS_length : 1188 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52006945 Intersect_end : 52015889 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_106998 Tx_version : 1 Tx_start : 94571230 Tx_end : 94571352 Exon_count : 1 Overlapped_tx_length : 122 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94571230 Intersect_end : 94571352 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_131938 Tx_version : 2 Tx_start : 57144619 Tx_end : 57147619 Exon_count : 2 Overlapped_tx_length : 3000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57144619 Intersect_end : 57147619 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MIR3913-1Gene_name : MIR3913-1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100500903 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_037475 Tx_version : 1 Tx_start : 69584721 Tx_end : 69584823 Exon_count : 1 Overlapped_tx_length : 102 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69584721 Intersect_end : 69584823 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PCBP2-OT1Gene_name : PCBP2-OT1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 102157401 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_109828 Tx_version : 1 Tx_start : 53464467 Tx_end : 53465057 Exon_count : 1 Overlapped_tx_length : 590 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53464467 Intersect_end : 53465057 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_157844 Tx_version : 1 Tx_start : 54262614 Tx_end : 54279063 Exon_count : 2 Overlapped_tx_length : 16449 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54262614 Intersect_end : 54279063 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : UTR Tx : NR_106819 Tx_version : 1 Tx_start : 111799833 Tx_end : 111799905 Exon_count : 1 Overlapped_tx_length : 72 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111799833 Intersect_end : 111799905 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CPNE8-AS1Gene_name : CPNE8-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 107984504 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063275 Tx_version : 1 Tx_start : 38905711 Tx_end : 38909592 Exon_count : 2 Overlapped_tx_length : 3881 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 38905711 Intersect_end : 38909592 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
R3HDM2-DTGene_name : R3HDM2-DT; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 120766140 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_185976 Tx_version : 1 Tx_start : 57431115 Tx_end : 57433935 Exon_count : 2 Overlapped_tx_length : 2820 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57431115 Intersect_end : 57433935 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : NR_030349 Tx_version : 1 Tx_start : 80935735 Tx_end : 80935833 Exon_count : 1 Overlapped_tx_length : 98 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80935735 Intersect_end : 80935833 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BICD1-AS1Gene_name : BICD1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 120766143 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : NR_185992 Tx_version : 1 Tx_start : 32104116 Tx_end : 32107462 Exon_count : 3 Overlapped_tx_length : 3346 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 32104116 Intersect_end : 32107462 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BCDIN3D-AS1Gene_name : BCDIN3D-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100286844 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_027499 Tx_version : 1 Tx_start : 49828542 Tx_end : 49841154 Exon_count : 3 Overlapped_tx_length : 12612 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49828542 Intersect_end : 49841154 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPP1R12A-AS1Gene_name : PPP1R12A-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369865 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : NR_146533 Tx_version : 1 Tx_start : 79935280 Tx_end : 79941395 Exon_count : 3 Overlapped_tx_length : 6115 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 79935280 Intersect_end : 79941395 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02454Gene_name : LINC02454; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369807 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_146529 Tx_version : 1 Tx_start : 65602868 Tx_end : 65612987 Exon_count : 3 Overlapped_tx_length : 10119 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65602868 Intersect_end : 65612987 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MSRB3-AS1Gene_name : MSRB3-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507065 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_120431 Tx_version : 1 Tx_start : 65466816 Tx_end : 65642372 Exon_count : 4 Overlapped_tx_length : 175556 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65466816 Intersect_end : 65642372 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02391Gene_name : LINC02391; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101930023 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063403 Tx_version : 1 Tx_start : 92259262 Tx_end : 92363832 Exon_count : 7 Overlapped_tx_length : 104570 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92259262 Intersect_end : 92363832 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATP5F1BGene_name : ATP5F1B; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 506 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001686 Tx_version : 4 Tx_start : 56638174 Tx_end : 56645984 Exon_count : 10 Overlapped_tx_length : 7810 Overlapped_CDS_length : 1590 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56638174 Intersect_end : 56645984 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Hypermetabolism_due_to_Defect_in_Mitochondrial_Coupling; Hypermetabolism_due_to_uncoupled_mitochondrial_oxidative_phosphorylation_2 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001365156 Tx_version : 1 Tx_start : 124295092 Tx_end : 124316024 Exon_count : 3 Overlapped_tx_length : 20932 Overlapped_CDS_length : 651 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124295092 Intersect_end : 124316024 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : NR_120464 Tx_version : 1 Tx_start : 117099466 Tx_end : 117141489 Exon_count : 3 Overlapped_tx_length : 42023 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 117099466 Intersect_end : 117141489 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_038924 Tx_version : 1 Tx_start : 120201290 Tx_end : 120212828 Exon_count : 4 Overlapped_tx_length : 11538 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120201290 Intersect_end : 120212828 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : NM_033276 Tx_version : 4 Tx_start : 57941566 Tx_end : 57959148 Exon_count : 6 Overlapped_tx_length : 17582 Overlapped_CDS_length : 741 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57941566 Intersect_end : 57959148 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC38A4-AS1Gene_name : SLC38A4-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100288798 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_125377 Tx_version : 1 Tx_start : 46383675 Tx_end : 46652579 Exon_count : 4 Overlapped_tx_length : 268904 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46383675 Intersect_end : 46652579 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : NR_033410 Tx_version : 1 Tx_start : 87782884 Tx_end : 87784711 Exon_count : 1 Overlapped_tx_length : 1827 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 87782884 Intersect_end : 87784711 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:87669425-87863288 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_027157 Tx_version : 1 Tx_start : 98512972 Tx_end : 98516226 Exon_count : 2 Overlapped_tx_length : 3254 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98512972 Intersect_end : 98516226 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_038269 Tx_version : 1 Tx_start : 57931448 Tx_end : 57936164 Exon_count : 3 Overlapped_tx_length : 4716 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57931448 Intersect_end : 57936164 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_031625 Tx_version : 1 Tx_start : 50234141 Tx_end : 50234212 Exon_count : 1 Overlapped_tx_length : 71 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50234141 Intersect_end : 50234212 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_120460 Tx_version : 1 Tx_start : 70222189 Tx_end : 70243360 Exon_count : 5 Overlapped_tx_length : 21171 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 70222189 Intersect_end : 70243360 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02458Gene_name : LINC02458; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 728084 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : NR_038385 Tx_version : 1 Tx_start : 89011125 Tx_end : 89019692 Exon_count : 3 Overlapped_tx_length : 8567 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89011125 Intersect_end : 89019692 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_047517 Tx_version : 2 Tx_start : 53962311 Tx_end : 53974954 Exon_count : 6 Overlapped_tx_length : 12643 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53962311 Intersect_end : 53974954 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00938Gene_name : LINC00938; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 400027 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_028408 Tx_version : 1 Tx_start : 45725719 Tx_end : 45727921 Exon_count : 1 Overlapped_tx_length : 2202 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45725719 Intersect_end : 45727921 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02406Gene_name : LINC02406; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369730 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_183477 Tx_version : 1 Tx_start : 39087710 Tx_end : 39145470 Exon_count : 3 Overlapped_tx_length : 57760 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39087710 Intersect_end : 39145470 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01479Gene_name : LINC01479; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927922 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_120456 Tx_version : 1 Tx_start : 67929234 Tx_end : 67970017 Exon_count : 3 Overlapped_tx_length : 40783 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67929234 Intersect_end : 67970017 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02439Gene_name : LINC02439; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370016 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_134997 Tx_version : 1 Tx_start : 118818803 Tx_end : 118833536 Exon_count : 3 Overlapped_tx_length : 14733 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118818803 Intersect_end : 118833536 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:118796546-118852767; chr12:118796655-118852819 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CNPY2-AS1Gene_name : CNPY2-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 112268098 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : XR_002957416 Tx_version : 2 Tx_start : 56311413 Tx_end : 56314808 Exon_count : 2 Overlapped_tx_length : 3395 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56311413 Intersect_end : 56314808 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02419Gene_name : LINC02419; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370078 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_146538 Tx_version : 1 Tx_start : 130071334 Tx_end : 130072685 Exon_count : 2 Overlapped_tx_length : 1351 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130071334 Intersect_end : 130072685 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00507Gene_name : LINC00507; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100862680 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_046392 Tx_version : 1 Tx_start : 127915409 Tx_end : 127951552 Exon_count : 5 Overlapped_tx_length : 36143 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127915409 Intersect_end : 127951552 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_037425 Tx_version : 1 Tx_start : 103930424 Tx_end : 103930555 Exon_count : 1 Overlapped_tx_length : 131 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103930424 Intersect_end : 103930555 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_107005 Tx_version : 1 Tx_start : 42323699 Tx_end : 42323859 Exon_count : 1 Overlapped_tx_length : 160 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42323699 Intersect_end : 42323859 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_106957 Tx_version : 1 Tx_start : 121444272 Tx_end : 121444352 Exon_count : 1 Overlapped_tx_length : 80 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121444272 Intersect_end : 121444352 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GLIPR1-AS1Gene_name : GLIPR1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 123706544 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063373 Tx_version : 1 Tx_start : 75483453 Tx_end : 75489821 Exon_count : 2 Overlapped_tx_length : 6368 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75483453 Intersect_end : 75489821 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02381Gene_name : LINC02381; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 400043 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_026656 Tx_version : 1 Tx_start : 54126070 Tx_end : 54132843 Exon_count : 2 Overlapped_tx_length : 6773 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54126070 Intersect_end : 54132843 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : XM_011538718 Tx_version : 4 Tx_start : 103950193 Tx_end : 103957215 Exon_count : 5 Overlapped_tx_length : 7022 Overlapped_CDS_length : 429 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103950193 Intersect_end : 103957215 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02387Gene_name : LINC02387; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101929027 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : NR_146469 Tx_version : 1 Tx_start : 31363480 Tx_end : 31369301 Exon_count : 2 Overlapped_tx_length : 5821 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31363480 Intersect_end : 31369301 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_106940 Tx_version : 1 Tx_start : 124337180 Tx_end : 124337242 Exon_count : 1 Overlapped_tx_length : 62 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124337180 Intersect_end : 124337242 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SNORA105CGene_name : SNORA105C; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 106635541 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_132789 Tx_version : 1 Tx_start : 56512864 Tx_end : 56512980 Exon_count : 1 Overlapped_tx_length : 116 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56512864 Intersect_end : 56512980 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC4A8-AS1Gene_name : SLC4A8-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 107984508 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_001749147 Tx_version : 2 Tx_start : 51421898 Tx_end : 51425328 Exon_count : 3 Overlapped_tx_length : 3430 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51421898 Intersect_end : 51425328 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_015054 Tx_version : 2 Tx_start : 100037071 Tx_end : 100142874 Exon_count : 21 Overlapped_tx_length : 105803 Overlapped_CDS_length : 4395 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100037071 Intersect_end : 100142874 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : NR_135036 Tx_version : 1 Tx_start : 92146084 Tx_end : 92185784 Exon_count : 3 Overlapped_tx_length : 39700 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92146084 Intersect_end : 92185784 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02370Gene_name : LINC02370; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 338797 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_103736 Tx_version : 1 Tx_start : 131347469 Tx_end : 131367555 Exon_count : 5 Overlapped_tx_length : 20086 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131347469 Intersect_end : 131367555 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_153364 Tx_version : 4 Tx_start : 99647752 Tx_end : 99650114 Exon_count : 2 Overlapped_tx_length : 2362 Overlapped_CDS_length : 726 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 99647752 Intersect_end : 99650114 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:99642467-99681525; chr12:99644581-99650237 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02375Gene_name : LINC02375; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927616 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_110057 Tx_version : 1 Tx_start : 127324154 Tx_end : 127340072 Exon_count : 3 Overlapped_tx_length : 15918 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127324154 Intersect_end : 127340072 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_030346 Tx_version : 1 Tx_start : 57519162 Tx_end : 57519259 Exon_count : 1 Overlapped_tx_length : 97 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57519162 Intersect_end : 57519259 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02416Gene_name : LINC02416; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 107984528 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_183615 Tx_version : 1 Tx_start : 47353767 Tx_end : 47371840 Exon_count : 4 Overlapped_tx_length : 18073 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47353767 Intersect_end : 47371840 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:47332217-47419217 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_047506 Tx_version : 1 Tx_start : 53983950 Tx_end : 53985519 Exon_count : 3 Overlapped_tx_length : 1569 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53983950 Intersect_end : 53985519 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_037406 Tx_version : 1 Tx_start : 128294091 Tx_end : 128294178 Exon_count : 1 Overlapped_tx_length : 87 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128294091 Intersect_end : 128294178 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02394Gene_name : LINC02394; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369841 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : NR_187487 Tx_version : 1 Tx_start : 74022079 Tx_end : 74049981 Exon_count : 3 Overlapped_tx_length : 27902 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 74022079 Intersect_end : 74049981 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:73895447-74086599; chr12:74004415-74059527; chr12:74014370-74072583 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02413Gene_name : LINC02413; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369906 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_945212 Tx_version : 3 Tx_start : 92990744 Tx_end : 93019607 Exon_count : 4 Overlapped_tx_length : 28863 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92990744 Intersect_end : 93019607 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q22-q23.1 Location2 : UTR Tx : NR_135014 Tx_version : 1 Tx_start : 95795344 Tx_end : 95858839 Exon_count : 3 Overlapped_tx_length : 63495 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95795344 Intersect_end : 95858839 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_033854 Tx_version : 1 Tx_start : 53043188 Tx_end : 53054438 Exon_count : 4 Overlapped_tx_length : 11250 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53043188 Intersect_end : 53054438 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02441Gene_name : LINC02441; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370070 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_131985 Tx_version : 1 Tx_start : 128023787 Tx_end : 128027166 Exon_count : 3 Overlapped_tx_length : 3379 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128023787 Intersect_end : 128027166 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TROAP-AS1Gene_name : TROAP-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927267 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_120449 Tx_version : 1 Tx_start : 49292630 Tx_end : 49324576 Exon_count : 8 Overlapped_tx_length : 31946 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49292630 Intersect_end : 49324576 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:49295147-49298686P_loss_coord : 12:49295147-49298686 P_loss_source : morbid:PRPH P_loss_phen : Amyotrophic lateral sclerosis, susceptibility to, 105400 (3) AR,AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
RASSF3-DTGene_name : RASSF3-DT; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369804 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : NR_187549 Tx_version : 1 Tx_start : 64599077 Tx_end : 64609466 Exon_count : 2 Overlapped_tx_length : 10389 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64599077 Intersect_end : 64609466 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PHLDA1-AS1Gene_name : PHLDA1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 120766149 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : NR_186034 Tx_version : 1 Tx_start : 76030493 Tx_end : 76031378 Exon_count : 2 Overlapped_tx_length : 885 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76030493 Intersect_end : 76031378 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001033050 Tx_version : 3 Tx_start : 106977276 Tx_end : 106987146 Exon_count : 3 Overlapped_tx_length : 9870 Overlapped_CDS_length : 1158 Overlapped_CDS_percent : 95 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106977276 Intersect_end : 106987146 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SBNO1-AS1Gene_name : SBNO1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 112268105 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_157805 Tx_version : 1 Tx_start : 123364947 Tx_end : 123365804 Exon_count : 2 Overlapped_tx_length : 857 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123364947 Intersect_end : 123365804 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM132D-AS1Gene_name : TMEM132D-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283352 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_104172 Tx_version : 2 Tx_start : 129109689 Tx_end : 129113298 Exon_count : 4 Overlapped_tx_length : 3609 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129109689 Intersect_end : 129113298 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : 5'UTR-3'UTR Tx : NM_001177996 Tx_version : 3 Tx_start : 111360678 Tx_end : 111369095 Exon_count : 4 Overlapped_tx_length : 8417 Overlapped_CDS_length : 789 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111360678 Intersect_end : 111369095 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_106740 Tx_version : 1 Tx_start : 62260358 Tx_end : 62260454 Exon_count : 1 Overlapped_tx_length : 96 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62260358 Intersect_end : 62260454 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_039719 Tx_version : 1 Tx_start : 120155433 Tx_end : 120155499 Exon_count : 1 Overlapped_tx_length : 66 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120155433 Intersect_end : 120155499 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02442Gene_name : LINC02442; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369815 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_183543 Tx_version : 1 Tx_start : 67570689 Tx_end : 67589990 Exon_count : 3 Overlapped_tx_length : 19301 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67570689 Intersect_end : 67589990 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_170197 Tx_version : 1 Tx_start : 54121276 Tx_end : 54126395 Exon_count : 3 Overlapped_tx_length : 5119 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54121276 Intersect_end : 54126395 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : UTR Tx : NR_146497 Tx_version : 1 Tx_start : 111599497 Tx_end : 111600255 Exon_count : 2 Overlapped_tx_length : 758 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111599497 Intersect_end : 111600255 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02231Gene_name : LINC02231; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 109729131 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_146276 Tx_version : 1 Tx_start : 64920844 Tx_end : 64992291 Exon_count : 4 Overlapped_tx_length : 71447 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64920844 Intersect_end : 64992291 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PLEKHA8P1Gene_name : PLEKHA8P1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 51054 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_037144 Tx_version : 1 Tx_start : 45173033 Tx_end : 45216006 Exon_count : 3 Overlapped_tx_length : 42973 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45173033 Intersect_end : 45216006 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_106757 Tx_version : 1 Tx_start : 66251081 Tx_end : 66251157 Exon_count : 1 Overlapped_tx_length : 76 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66251081 Intersect_end : 66251157 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PAFAH1B2P2Gene_name : PAFAH1B2P2; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 643711 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_077241 Tx_version : 1 Tx_start : 97713411 Tx_end : 97753598 Exon_count : 7 Overlapped_tx_length : 40187 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97713411 Intersect_end : 97753598 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_003925 Tx_version : 1 Tx_start : 120293093 Tx_end : 120293237 Exon_count : 1 Overlapped_tx_length : 144 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120293093 Intersect_end : 120293237 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02372Gene_name : LINC02372; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 440117 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_033970 Tx_version : 1 Tx_start : 126869493 Tx_end : 126874690 Exon_count : 3 Overlapped_tx_length : 5197 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126869493 Intersect_end : 126874690 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126839969-126935623 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00944Gene_name : LINC00944; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 387895 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_033878 Tx_version : 1 Tx_start : 126730700 Tx_end : 126772262 Exon_count : 5 Overlapped_tx_length : 41562 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126730700 Intersect_end : 126772262 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126655522-126828089 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_031728 Tx_version : 1 Tx_start : 100189883 Tx_end : 100189949 Exon_count : 1 Overlapped_tx_length : 66 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100189883 Intersect_end : 100189949 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
SLC38A2-AS1Gene_name : SLC38A2-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 102723757 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_187299 Tx_version : 1 Tx_start : 46372782 Tx_end : 46373778 Exon_count : 2 Overlapped_tx_length : 996 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46372782 Intersect_end : 46373778 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
DDX11-AS1Gene_name : DDX11-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100506660 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : NR_038927 Tx_version : 2 Tx_start : 31020762 Tx_end : 31073847 Exon_count : 3 Overlapped_tx_length : 53085 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31020762 Intersect_end : 31073847 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02450Gene_name : LINC02450; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369739 |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : NR_135028 Tx_version : 1 Tx_start : 42692215 Tx_end : 42717119 Exon_count : 4 Overlapped_tx_length : 24904 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42692215 Intersect_end : 42717119 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_145803 Tx_version : 1 Tx_start : 69515439 Tx_end : 69515593 Exon_count : 1 Overlapped_tx_length : 154 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69515439 Intersect_end : 69515593 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00485Gene_name : LINC00485; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 283432 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_033855 Tx_version : 1 Tx_start : 102809282 Tx_end : 102824399 Exon_count : 5 Overlapped_tx_length : 15117 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102809282 Intersect_end : 102824399 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : NR_187552 Tx_version : 1 Tx_start : 114682291 Tx_end : 114767988 Exon_count : 2 Overlapped_tx_length : 85697 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114682291 Intersect_end : 114767988 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
GPR84-AS1Gene_name : GPR84-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 102724050 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_120486 Tx_version : 1 Tx_start : 54353690 Tx_end : 54467030 Exon_count : 4 Overlapped_tx_length : 113340 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54353690 Intersect_end : 54467030 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001369216 Tx_version : 1 Tx_start : 52079703 Tx_end : 52108255 Exon_count : 3 Overlapped_tx_length : 28552 Overlapped_CDS_length : 282 Overlapped_CDS_percent : 70 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52079703 Intersect_end : 52108255 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FAM222A-AS1Gene_name : FAM222A-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84983 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : NR_026661 Tx_version : 2 Tx_start : 109734208 Tx_end : 109773487 Exon_count : 4 Overlapped_tx_length : 39279 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109734208 Intersect_end : 109773487 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATP2B1-AS1Gene_name : ATP2B1-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 338758 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : NR_028138 Tx_version : 1 Tx_start : 89708954 Tx_end : 89711952 Exon_count : 1 Overlapped_tx_length : 2998 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89708954 Intersect_end : 89711952 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_033335 Tx_version : 1 Tx_start : 68627233 Tx_end : 68627375 Exon_count : 1 Overlapped_tx_length : 142 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68627233 Intersect_end : 68627375 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : NR_126425 Tx_version : 1 Tx_start : 113472002 Tx_end : 113480481 Exon_count : 2 Overlapped_tx_length : 8479 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113472002 Intersect_end : 113480481 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : 5'UTR-3'UTR Tx : NM_001351123 Tx_version : 2 Tx_start : 48727434 Tx_end : 48765790 Exon_count : 4 Overlapped_tx_length : 38356 Overlapped_CDS_length : 396 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48727434 Intersect_end : 48765790 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_110108 Tx_version : 1 Tx_start : 105704202 Tx_end : 105744063 Exon_count : 3 Overlapped_tx_length : 39861 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105704202 Intersect_end : 105744063 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_039850 Tx_version : 2 Tx_start : 48771974 Tx_end : 48772037 Exon_count : 1 Overlapped_tx_length : 63 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48771974 Intersect_end : 48772037 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00943Gene_name : LINC00943; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507206 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_038256 Tx_version : 1 Tx_start : 126737006 Tx_end : 126746256 Exon_count : 4 Overlapped_tx_length : 9250 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126737006 Intersect_end : 126746256 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126655522-126828089; chr12:126719886-126758432 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_003046 Tx_version : 1 Tx_start : 56643679 Tx_end : 56643754 Exon_count : 1 Overlapped_tx_length : 75 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56643679 Intersect_end : 56643754 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02385Gene_name : LINC02385; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369948 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_945288 Tx_version : 4 Tx_start : 104169971 Tx_end : 104177661 Exon_count : 3 Overlapped_tx_length : 7690 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104169971 Intersect_end : 104177661 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02823Gene_name : LINC02823; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369897 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : NR_183611 Tx_version : 1 Tx_start : 91326925 Tx_end : 91368606 Exon_count : 4 Overlapped_tx_length : 41681 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91326925 Intersect_end : 91368606 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272; chr12:91326228-91718339 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02423Gene_name : LINC02423; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370014 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_134998 Tx_version : 1 Tx_start : 118758753 Tx_end : 118761679 Exon_count : 3 Overlapped_tx_length : 2926 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118758753 Intersect_end : 118761679 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
CAPS2-AS1Gene_name : CAPS2-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 107983975 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_001749212 Tx_version : 2 Tx_start : 75258189 Tx_end : 75298285 Exon_count : 5 Overlapped_tx_length : 40096 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75258189 Intersect_end : 75298285 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02421Gene_name : LINC02421; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927901 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_110063 Tx_version : 1 Tx_start : 67709046 Tx_end : 67729475 Exon_count : 5 Overlapped_tx_length : 20429 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67709046 Intersect_end : 67729475 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MIR9902-2Gene_name : MIR9902-2; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 113218511 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_162150 Tx_version : 1 Tx_start : 122709331 Tx_end : 122709424 Exon_count : 1 Overlapped_tx_length : 93 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122709331 Intersect_end : 122709424 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:122701033-122714056; chr12:122702434-122717012; chr12:122705237-122718620 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
FIGNL2-DTGene_name : FIGNL2-DT; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369971 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_135803 Tx_version : 1 Tx_start : 51848222 Tx_end : 51852729 Exon_count : 3 Overlapped_tx_length : 4507 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51848222 Intersect_end : 51852729 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_039849 Tx_version : 1 Tx_start : 120723192 Tx_end : 120723266 Exon_count : 1 Overlapped_tx_length : 74 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120723192 Intersect_end : 120723266 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01405Gene_name : LINC01405; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100131138 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : NR_036513 Tx_version : 1 Tx_start : 110936601 Tx_end : 110937448 Exon_count : 2 Overlapped_tx_length : 847 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110936601 Intersect_end : 110937448 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02393Gene_name : LINC02393; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 400087 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_033987 Tx_version : 1 Tx_start : 127881616 Tx_end : 127898639 Exon_count : 3 Overlapped_tx_length : 17023 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127881616 Intersect_end : 127898639 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00508Gene_name : LINC00508; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 104472718 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_126452 Tx_version : 2 Tx_start : 127883988 Tx_end : 127983891 Exon_count : 4 Overlapped_tx_length : 99903 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127883988 Intersect_end : 127983891 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001018072 Tx_version : 2 Tx_start : 107318433 Tx_end : 107659642 Exon_count : 17 Overlapped_tx_length : 341209 Overlapped_CDS_length : 3315 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107318433 Intersect_end : 107659642 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02408Gene_name : LINC02408; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507175 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_103861 Tx_version : 1 Tx_start : 67520081 Tx_end : 67567131 Exon_count : 3 Overlapped_tx_length : 47050 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67520081 Intersect_end : 67567131 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_021640 Tx_version : 4 Tx_start : 53299694 Tx_end : 53307177 Exon_count : 7 Overlapped_tx_length : 7483 Overlapped_CDS_length : 1131 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53299694 Intersect_end : 53307177 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_002950 Tx_version : 1 Tx_start : 48656647 Tx_end : 48656782 Exon_count : 1 Overlapped_tx_length : 135 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48656647 Intersect_end : 48656782 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02882Gene_name : LINC02882; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507377 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : NR_038300 Tx_version : 1 Tx_start : 74133172 Tx_end : 74292631 Exon_count : 7 Overlapped_tx_length : 159459 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 74133172 Intersect_end : 74292631 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001319661 Tx_version : 2 Tx_start : 106955906 Tx_end : 106974035 Exon_count : 3 Overlapped_tx_length : 18129 Overlapped_CDS_length : 351 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106955906 Intersect_end : 106974035 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PHLDA1-DTGene_name : PHLDA1-DT; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 120766142 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : NR_185978 Tx_version : 1 Tx_start : 76031812 Tx_end : 76034389 Exon_count : 2 Overlapped_tx_length : 2577 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76031812 Intersect_end : 76034389 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02405Gene_name : LINC02405; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927592 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_104646 Tx_version : 1 Tx_start : 126915226 Tx_end : 127060397 Exon_count : 7 Overlapped_tx_length : 145171 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126915226 Intersect_end : 127060397 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_031692 Tx_version : 1 Tx_start : 69273156 Tx_end : 69273218 Exon_count : 1 Overlapped_tx_length : 62 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69273156 Intersect_end : 69273218 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_152318 Tx_version : 3 Tx_start : 104986315 Tx_end : 105017625 Exon_count : 4 Overlapped_tx_length : 31310 Overlapped_CDS_length : 558 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104986315 Intersect_end : 105017625 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PCED1BGene_name : PCED1B; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : 8.2661e-03 HI : . TS : . DDD_HI_percent : 83.96 ACMG : . ExAC_cnvZ : 0.415351080506583 ExAC_delZ : 0.0860561156597699 ExAC_dupZ : 0.365025502547288 ExAC_synZ : 1.07909940478598 ExAC_misZ : 1.71420523799133 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 91523 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_001281429 Tx_version : 2 Tx_start : 47079620 Tx_end : 47236660 Exon_count : 3 Overlapped_tx_length : 157040 Overlapped_CDS_length : 1299 Overlapped_CDS_percent : 81 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47079620 Intersect_end : 47236660 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
USP30-AS1Gene_name : USP30-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100131733 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : NR_038996 Tx_version : 1 Tx_start : 109052040 Tx_end : 109053965 Exon_count : 2 Overlapped_tx_length : 1925 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109052040 Intersect_end : 109053965 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_110049 Tx_version : 2 Tx_start : 123581065 Tx_end : 123584327 Exon_count : 3 Overlapped_tx_length : 3262 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123581065 Intersect_end : 123584327 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_031623 Tx_version : 1 Tx_start : 48654443 Tx_end : 48654530 Exon_count : 1 Overlapped_tx_length : 87 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48654443 Intersect_end : 48654530 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02445Gene_name : LINC02445; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369840 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063369 Tx_version : 1 Tx_start : 73758656 Tx_end : 73846177 Exon_count : 4 Overlapped_tx_length : 87521 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 73758656 Intersect_end : 73846177 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : NR_106956 Tx_version : 1 Tx_start : 113159112 Tx_end : 113159177 Exon_count : 1 Overlapped_tx_length : 65 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113159112 Intersect_end : 113159177 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_031597 Tx_version : 1 Tx_start : 57194503 Tx_end : 57194576 Exon_count : 1 Overlapped_tx_length : 73 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57194503 Intersect_end : 57194576 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_039715 Tx_version : 1 Tx_start : 47364185 Tx_end : 47364269 Exon_count : 1 Overlapped_tx_length : 84 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47364185 Intersect_end : 47364269 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:47332217-47419217 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
KRT73-AS1Gene_name : KRT73-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100127967 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_126005 Tx_version : 1 Tx_start : 52609850 Tx_end : 52615305 Exon_count : 3 Overlapped_tx_length : 5455 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52609850 Intersect_end : 52615305 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:52604253-52618660 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_029661 Tx_version : 1 Tx_start : 62603685 Tx_end : 62603769 Exon_count : 1 Overlapped_tx_length : 84 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62603685 Intersect_end : 62603769 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : NR_024072 Tx_version : 2 Tx_start : 71848291 Tx_end : 71850983 Exon_count : 1 Overlapped_tx_length : 2692 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71848291 Intersect_end : 71850983 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_031653 Tx_version : 1 Tx_start : 97491908 Tx_end : 97491978 Exon_count : 1 Overlapped_tx_length : 70 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97491908 Intersect_end : 97491978 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
POC1B-AS1Gene_name : POC1B-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 109729146 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : NR_146294 Tx_version : 1 Tx_start : 89525569 Tx_end : 89541542 Exon_count : 2 Overlapped_tx_length : 15973 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89525569 Intersect_end : 89541542 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_110019 Tx_version : 1 Tx_start : 48789146 Tx_end : 48790535 Exon_count : 3 Overlapped_tx_length : 1389 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48789146 Intersect_end : 48790535 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_002951 Tx_version : 1 Tx_start : 48667456 Tx_end : 48667593 Exon_count : 1 Overlapped_tx_length : 137 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48667456 Intersect_end : 48667593 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC03088Gene_name : LINC03088; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 124903027 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : XR_007063473 Tx_version : 1 Tx_start : 116661543 Tx_end : 116698179 Exon_count : 2 Overlapped_tx_length : 36636 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116661543 Intersect_end : 116698179 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : NR_030351 Tx_version : 1 Tx_start : 116148559 Tx_end : 116148654 Exon_count : 1 Overlapped_tx_length : 95 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116148559 Intersect_end : 116148654 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_183427 Tx_version : 1 Tx_start : 121580510 Tx_end : 121596094 Exon_count : 4 Overlapped_tx_length : 15584 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121580510 Intersect_end : 121596094 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02985Gene_name : LINC02985; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100506691 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_135044 Tx_version : 1 Tx_start : 122063289 Tx_end : 122068560 Exon_count : 4 Overlapped_tx_length : 5271 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122063289 Intersect_end : 122068560 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01490Gene_name : LINC01490; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101928420 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : NR_120468 Tx_version : 1 Tx_start : 80763153 Tx_end : 80770717 Exon_count : 5 Overlapped_tx_length : 7564 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80763153 Intersect_end : 80770717 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:80502697-80806958 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_077225 Tx_version : 1 Tx_start : 95649254 Tx_end : 95673999 Exon_count : 5 Overlapped_tx_length : 24745 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95649254 Intersect_end : 95673999 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM263-DTGene_name : TMEM263-DT; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 119863870 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_185933 Tx_version : 1 Tx_start : 106953512 Tx_end : 106955495 Exon_count : 1 Overlapped_tx_length : 1983 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106953512 Intersect_end : 106955495 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TSPAN11-AS1Gene_name : TSPAN11-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 124902910 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_007063261 Tx_version : 1 Tx_start : 30978307 Tx_end : 31005972 Exon_count : 3 Overlapped_tx_length : 27665 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 30978307 Intersect_end : 31005972 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01404Gene_name : LINC01404; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369980 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : NR_135001 Tx_version : 1 Tx_start : 110951682 Tx_end : 110957818 Exon_count : 4 Overlapped_tx_length : 6136 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110951682 Intersect_end : 110957818 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_049820 Tx_version : 1 Tx_start : 124915546 Tx_end : 124915659 Exon_count : 1 Overlapped_tx_length : 113 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124915546 Intersect_end : 124915659 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02822Gene_name : LINC02822; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 102724834 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_429171 Tx_version : 5 Tx_start : 90593566 Tx_end : 90683348 Exon_count : 4 Overlapped_tx_length : 89782 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 90593566 Intersect_end : 90683348 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90284222-90686223; chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_030171 Tx_version : 1 Tx_start : 94834397 Tx_end : 94834513 Exon_count : 1 Overlapped_tx_length : 116 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94834397 Intersect_end : 94834513 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PRDM4-AS1Gene_name : PRDM4-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101929162 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_120474 Tx_version : 1 Tx_start : 107736554 Tx_end : 107759968 Exon_count : 5 Overlapped_tx_length : 23414 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107736554 Intersect_end : 107759968 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : NR_039717 Tx_version : 1 Tx_start : 108635809 Tx_end : 108635870 Exon_count : 1 Overlapped_tx_length : 61 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108635809 Intersect_end : 108635870 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_029678 Tx_version : 1 Tx_start : 97563811 Tx_end : 97563911 Exon_count : 1 Overlapped_tx_length : 100 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97563811 Intersect_end : 97563911 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ATF7-NPFFGene_name : ATF7-NPFF; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 114108587 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001366559 Tx_version : 1 Tx_start : 53506687 Tx_end : 53626382 Exon_count : 13 Overlapped_tx_length : 119695 Overlapped_CDS_length : 1392 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53506687 Intersect_end : 53626382 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02258Gene_name : LINC02258; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 110806294 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : NR_149056 Tx_version : 1 Tx_start : 87768811 Tx_end : 87805749 Exon_count : 4 Overlapped_tx_length : 36938 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 87768811 Intersect_end : 87805749 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:87669425-87863288 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
HMGA2-AS1Gene_name : HMGA2-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100129940 |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_158985 Tx_version : 1 Tx_start : 65851226 Tx_end : 65882325 Exon_count : 3 Overlapped_tx_length : 31099 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65851226 Intersect_end : 65882325 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MYL6B-AS1Gene_name : MYL6B-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 120766150 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : NR_186043 Tx_version : 1 Tx_start : 56150795 Tx_end : 56158225 Exon_count : 3 Overlapped_tx_length : 7430 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56150795 Intersect_end : 56158225 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : NR_038440 Tx_version : 1 Tx_start : 114408194 Tx_end : 114412832 Exon_count : 3 Overlapped_tx_length : 4638 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114408194 Intersect_end : 114412832 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02464Gene_name : LINC02464; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369854 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : NR_187539 Tx_version : 1 Tx_start : 77219602 Tx_end : 77317234 Exon_count : 5 Overlapped_tx_length : 97632 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 77219602 Intersect_end : 77317234 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02401Gene_name : LINC02401; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101929084 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_110103 Tx_version : 1 Tx_start : 103547793 Tx_end : 103559815 Exon_count : 5 Overlapped_tx_length : 12022 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103547793 Intersect_end : 103559815 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02826Gene_name : LINC02826; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370057 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_183612 Tx_version : 1 Tx_start : 125983522 Tx_end : 126043480 Exon_count : 10 Overlapped_tx_length : 59958 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125983522 Intersect_end : 126043480 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : XM_047428836 Tx_version : 1 Tx_start : 123388910 Tx_end : 123409353 Exon_count : 8 Overlapped_tx_length : 20443 Overlapped_CDS_length : 1164 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123388910 Intersect_end : 123409353 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_024449120 Tx_version : 2 Tx_start : 52065299 Tx_end : 52077495 Exon_count : 5 Overlapped_tx_length : 12196 Overlapped_CDS_length : 657 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52065299 Intersect_end : 52077495 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02459Gene_name : LINC02459; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369996 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : NR_146536 Tx_version : 1 Tx_start : 114238970 Tx_end : 114241770 Exon_count : 2 Overlapped_tx_length : 2800 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114238970 Intersect_end : 114241770 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : NR_037430 Tx_version : 1 Tx_start : 112037598 Tx_end : 112037715 Exon_count : 1 Overlapped_tx_length : 117 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112037598 Intersect_end : 112037715 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_027249 Tx_version : 1 Tx_start : 103843748 Tx_end : 103930211 Exon_count : 16 Overlapped_tx_length : 86463 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103843748 Intersect_end : 103930211 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_106816 Tx_version : 1 Tx_start : 57512687 Tx_end : 57512750 Exon_count : 1 Overlapped_tx_length : 63 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57512687 Intersect_end : 57512750 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_152618 Tx_version : 2 Tx_start : 97462803 Tx_end : 97565035 Exon_count : 11 Overlapped_tx_length : 102232 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97462803 Intersect_end : 97565035 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01089Gene_name : LINC01089; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 338799 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_002809 Tx_version : 3 Tx_start : 121795266 Tx_end : 121802946 Exon_count : 7 Overlapped_tx_length : 7680 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121795266 Intersect_end : 121802946 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_036685 Tx_version : 1 Tx_start : 94834453 Tx_end : 94835028 Exon_count : 1 Overlapped_tx_length : 575 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94834453 Intersect_end : 94835028 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02368Gene_name : LINC02368; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927694 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_104648 Tx_version : 1 Tx_start : 128118216 Tx_end : 128121952 Exon_count : 3 Overlapped_tx_length : 3736 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128118216 Intersect_end : 128121952 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_145743 Tx_version : 1 Tx_start : 123616709 Tx_end : 123616840 Exon_count : 1 Overlapped_tx_length : 131 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123616709 Intersect_end : 123616840 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dgv524e212B_loss_source : dgv524e212 B_loss_coord : 12:123614066-123625575 B_loss_AFmax : 0.0200 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MIR1302-1Gene_name : MIR1302-1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100302227 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : NR_031631 Tx_version : 1 Tx_start : 112695033 Tx_end : 112695176 Exon_count : 1 Overlapped_tx_length : 143 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112695033 Intersect_end : 112695176 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : XM_024448962 Tx_version : 2 Tx_start : 61708272 Tx_end : 62260034 Exon_count : 6 Overlapped_tx_length : 551762 Overlapped_CDS_length : 543 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 61708272 Intersect_end : 62260034 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_017019088 Tx_version : 2 Tx_start : 53047222 Tx_end : 53064379 Exon_count : 29 Overlapped_tx_length : 17157 Overlapped_CDS_length : 4257 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53047222 Intersect_end : 53064379 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02373Gene_name : LINC02373; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369822 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_185917 Tx_version : 1 Tx_start : 69447223 Tx_end : 69462793 Exon_count : 3 Overlapped_tx_length : 15570 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69447223 Intersect_end : 69462793 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02463Gene_name : LINC02463; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370004 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_001749337 Tx_version : 2 Tx_start : 115805982 Tx_end : 115886270 Exon_count : 5 Overlapped_tx_length : 80288 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 115805982 Intersect_end : 115886270 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC00941Gene_name : LINC00941; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100287314 |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : NR_040245 Tx_version : 1 Tx_start : 30795680 Tx_end : 30802711 Exon_count : 5 Overlapped_tx_length : 7031 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 30795680 Intersect_end : 30802711 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
TMEM132D-AS2Gene_name : TMEM132D-AS2; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101927735 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_110058 Tx_version : 1 Tx_start : 129208600 Tx_end : 129212662 Exon_count : 5 Overlapped_tx_length : 4062 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129208600 Intersect_end : 129212662 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:129183201-129249654 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
MIR3198-2Gene_name : MIR3198-2; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100616400 |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_039851 Tx_version : 1 Tx_start : 54231396 Tx_end : 54231476 Exon_count : 1 Overlapped_tx_length : 80 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54231396 Intersect_end : 54231476 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02820Gene_name : LINC02820; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369876 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : NR_183553 Tx_version : 1 Tx_start : 85318018 Tx_end : 85490127 Exon_count : 7 Overlapped_tx_length : 172109 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 85318018 Intersect_end : 85490127 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : NM_181788 Tx_version : 1 Tx_start : 48328979 Tx_end : 48330279 Exon_count : 1 Overlapped_tx_length : 1300 Overlapped_CDS_length : 768 Overlapped_CDS_percent : 77 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48328979 Intersect_end : 48330279 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02460Gene_name : LINC02460; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370013 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_187536 Tx_version : 1 Tx_start : 118644668 Tx_end : 118650667 Exon_count : 4 Overlapped_tx_length : 5999 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118644668 Intersect_end : 118650667 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02392Gene_name : LINC02392; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369893 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : NR_135018 Tx_version : 1 Tx_start : 90293317 Tx_end : 90300698 Exon_count : 3 Overlapped_tx_length : 7381 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 90293317 Intersect_end : 90300698 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:90284222-90686223 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02384Gene_name : LINC02384; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507195 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_120458 Tx_version : 1 Tx_start : 68431841 Tx_end : 68451484 Exon_count : 4 Overlapped_tx_length : 19643 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68431841 Intersect_end : 68451484 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01257Gene_name : LINC01257; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 116437 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_026670 Tx_version : 2 Tx_start : 131165010 Tx_end : 131212931 Exon_count : 5 Overlapped_tx_length : 47921 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131165010 Intersect_end : 131212931 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02824Gene_name : LINC02824; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105370060 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_183614 Tx_version : 1 Tx_start : 126690415 Tx_end : 126720330 Exon_count : 5 Overlapped_tx_length : 29915 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126690415 Intersect_end : 126720330 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126655522-126828089 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_036189 Tx_version : 1 Tx_start : 97995382 Tx_end : 97995448 Exon_count : 1 Overlapped_tx_length : 66 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97995382 Intersect_end : 97995448 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_026825 Tx_version : 2 Tx_start : 65758019 Tx_end : 65826974 Exon_count : 2 Overlapped_tx_length : 68955 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65758019 Intersect_end : 65826974 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Silver-Russell_syndrome_5 |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_039716 Tx_version : 1 Tx_start : 97939055 Tx_end : 97939121 Exon_count : 1 Overlapped_tx_length : 66 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97939055 Intersect_end : 97939121 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
PPP1R12A-AS2Gene_name : PPP1R12A-AS2; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369864 |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : NR_187531 Tx_version : 1 Tx_start : 79690031 Tx_end : 79779906 Exon_count : 7 Overlapped_tx_length : 89875 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 79690031 Intersect_end : 79779906 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC01234Gene_name : LINC01234; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100506465 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : NR_110025 Tx_version : 1 Tx_start : 113744576 Tx_end : 113773683 Exon_count : 2 Overlapped_tx_length : 29107 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113744576 Intersect_end : 113773683 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02821Gene_name : LINC02821; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369826 |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_945070 Tx_version : 3 Tx_start : 70180326 Tx_end : 70200751 Exon_count : 3 Overlapped_tx_length : 20425 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 70180326 Intersect_end : 70200751 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LINC02356Gene_name : LINC02356; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105369984 |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : UTR Tx : NR_187520 Tx_version : 1 Tx_start : 111369260 Tx_end : 111403310 Exon_count : 3 Overlapped_tx_length : 34050 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111369260 Intersect_end : 111403310 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_001749099 Tx_version : 2 Tx_start : 69007658 Tx_end : 69025331 Exon_count : 3 Overlapped_tx_length : 17673 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69007658 Intersect_end : 69025331 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : XM_017019298 Tx_version : 2 Tx_start : 51817898 Tx_end : 51840524 Exon_count : 2 Overlapped_tx_length : 22626 Overlapped_CDS_length : 2304 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51817898 Intersect_end : 51840524 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : NR_106820 Tx_version : 1 Tx_start : 113291522 Tx_end : 113291608 Exon_count : 1 Overlapped_tx_length : 86 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113291522 Intersect_end : 113291608 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:113275728-113325765; chr12:113276195-113301195 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370056Gene_name : LOC105370056; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_001749370 Tx_version : 2 Tx_start : 126014384 Tx_end : 126030540 Exon_count : 3 Overlapped_tx_length : 16156 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126014384 Intersect_end : 126030540 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369989Gene_name : LOC105369989; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : XR_945346 Tx_version : 3 Tx_start : 113353456 Tx_end : 113359510 Exon_count : 3 Overlapped_tx_length : 6054 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113353456 Intersect_end : 113359510 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107987177Gene_name : LOC107987177; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_001749181 Tx_version : 1 Tx_start : 131272169 Tx_end : 131273484 Exon_count : 2 Overlapped_tx_length : 1315 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131272169 Intersect_end : 131273484 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:[...]B_loss_source : 1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:40088; DDD:40091; dbVar; dgv29e203 B_loss_coord : chr12:131245620-131344309; 12:131245621-131344309; chr12:131245648-131286518; 12:131245649-131286518; 12:131245689-131344294; chr12:131245692-131344294; 12:131245804-131340783; 12:131247400-131341210; chr12:131260754-131295455; chr12:131271539-131277732; chr12:131271545-131277764; 12:131271546-131277764; 12:131271549-131277748 B_loss_AFmax : 0.0148 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : NR_153414 Tx_version : 1 Tx_start : 31111651 Tx_end : 31201235 Exon_count : 45 Overlapped_tx_length : 89584 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31111651 Intersect_end : 31201235 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369955Gene_name : LOC105369955; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_945295 Tx_version : 3 Tx_start : 105426621 Tx_end : 105442897 Exon_count : 3 Overlapped_tx_length : 16276 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105426621 Intersect_end : 105442897 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902970Gene_name : LOC124902970; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063379 Tx_version : 1 Tx_start : 76085084 Tx_end : 76086733 Exon_count : 2 Overlapped_tx_length : 1649 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76085084 Intersect_end : 76086733 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370064Gene_name : LOC105370064; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_001749391 Tx_version : 2 Tx_start : 127184124 Tx_end : 127205927 Exon_count : 2 Overlapped_tx_length : 21803 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127184124 Intersect_end : 127205927 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984542Gene_name : LOC107984542; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : XR_007063394 Tx_version : 1 Tx_start : 88033092 Tx_end : 88035496 Exon_count : 3 Overlapped_tx_length : 2404 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88033092 Intersect_end : 88035496 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:88027812-88118905 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369885Gene_name : LOC105369885; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32-q21.33 Location2 : UTR Tx : NR_188177 Tx_version : 1 Tx_start : 88580535 Tx_end : 88600599 Exon_count : 4 Overlapped_tx_length : 20064 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88580535 Intersect_end : 88600599 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369964Gene_name : LOC105369964; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_945320 Tx_version : 2 Tx_start : 107912750 Tx_end : 107916288 Exon_count : 4 Overlapped_tx_length : 3538 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107912750 Intersect_end : 107916288 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903030Gene_name : LOC124903030; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_007063479 Tx_version : 1 Tx_start : 118061459 Tx_end : 118077980 Exon_count : 2 Overlapped_tx_length : 16521 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118061459 Intersect_end : 118077980 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902913Gene_name : LOC124902913; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_007063269 Tx_version : 1 Tx_start : 31626274 Tx_end : 31652058 Exon_count : 2 Overlapped_tx_length : 25784 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31626274 Intersect_end : 31652058 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902964Gene_name : LOC124902964; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063366 Tx_version : 1 Tx_start : 71587629 Tx_end : 71593552 Exon_count : 2 Overlapped_tx_length : 5923 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71587629 Intersect_end : 71593552 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100996696Gene_name : LOC100996696; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : XM_047429976 Tx_version : 1 Tx_start : 59812093 Tx_end : 59812618 Exon_count : 1 Overlapped_tx_length : 525 Overlapped_CDS_length : 483 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 59812093 Intersect_end : 59812618 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:59445875-60579362 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369798Gene_name : LOC105369798; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : XR_945018 Tx_version : 2 Tx_start : 64099419 Tx_end : 64130732 Exon_count : 2 Overlapped_tx_length : 31313 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64099419 Intersect_end : 64130732 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369976Gene_name : LOC105369976; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_945334 Tx_version : 2 Tx_start : 110082696 Tx_end : 110102376 Exon_count : 3 Overlapped_tx_length : 19680 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110082696 Intersect_end : 110102376 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101927531Gene_name : LOC101927531; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_187677 Tx_version : 1 Tx_start : 126358018 Tx_end : 126361065 Exon_count : 3 Overlapped_tx_length : 3047 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126358018 Intersect_end : 126361065 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126249820-126388933 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370007Gene_name : LOC105370007; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : XR_945394 Tx_version : 3 Tx_start : 116484397 Tx_end : 116490951 Exon_count : 3 Overlapped_tx_length : 6554 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116484397 Intersect_end : 116490951 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370047Gene_name : LOC105370047; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_188646 Tx_version : 1 Tx_start : 124513221 Tx_end : 124516798 Exon_count : 3 Overlapped_tx_length : 3577 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124513221 Intersect_end : 124516798 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900329Gene_name : LOC124900329; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_007063632 Tx_version : 1 Tx_start : 114737703 Tx_end : 114737798 Exon_count : 1 Overlapped_tx_length : 95 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114737703 Intersect_end : 114737798 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:114737273-114740323 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC102723639Gene_name : LOC102723639; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_007063588 Tx_version : 1 Tx_start : 115039605 Tx_end : 115105238 Exon_count : 8 Overlapped_tx_length : 65633 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 115039605 Intersect_end : 115105238 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC102724680Gene_name : LOC102724680; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_945152 Tx_version : 3 Tx_start : 84912836 Tx_end : 84992657 Exon_count : 5 Overlapped_tx_length : 79821 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 84912836 Intersect_end : 84992657 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105378256Gene_name : LOC105378256; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_945331 Tx_version : 3 Tx_start : 108983754 Tx_end : 109007721 Exon_count : 3 Overlapped_tx_length : 23967 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108983754 Intersect_end : 109007721 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984450Gene_name : LOC107984450; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_007063520 Tx_version : 1 Tx_start : 127142004 Tx_end : 127146080 Exon_count : 3 Overlapped_tx_length : 4076 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127142004 Intersect_end : 127146080 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369928Gene_name : LOC105369928; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_945250 Tx_version : 4 Tx_start : 97185079 Tx_end : 97218097 Exon_count : 3 Overlapped_tx_length : 33018 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97185079 Intersect_end : 97218097 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903037Gene_name : LOC124903037; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063498 Tx_version : 1 Tx_start : 121375424 Tx_end : 121392426 Exon_count : 2 Overlapped_tx_length : 17002 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121375424 Intersect_end : 121392426 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902965Gene_name : LOC124902965; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063367 Tx_version : 1 Tx_start : 71671589 Tx_end : 71686064 Exon_count : 2 Overlapped_tx_length : 14475 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71671589 Intersect_end : 71686064 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370053Gene_name : LOC105370053; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_945492 Tx_version : 3 Tx_start : 125151337 Tx_end : 125161019 Exon_count : 3 Overlapped_tx_length : 9682 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125151337 Intersect_end : 125161019 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984543Gene_name : LOC107984543; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_007063399 Tx_version : 1 Tx_start : 89712236 Tx_end : 89817100 Exon_count : 7 Overlapped_tx_length : 104864 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89712236 Intersect_end : 89817100 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369990Gene_name : LOC105369990; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : XR_945348 Tx_version : 1 Tx_start : 113639042 Tx_end : 113644515 Exon_count : 4 Overlapped_tx_length : 5473 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113639042 Intersect_end : 113644515 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903094Gene_name : LOC124903094; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : UTR Tx : XR_007063618 Tx_version : 1 Tx_start : 111564820 Tx_end : 111564883 Exon_count : 1 Overlapped_tx_length : 63 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111564820 Intersect_end : 111564883 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902968Gene_name : LOC124902968; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063372 Tx_version : 1 Tx_start : 75359882 Tx_end : 75361469 Exon_count : 2 Overlapped_tx_length : 1587 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75359882 Intersect_end : 75361469 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369959Gene_name : LOC105369959; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_945309 Tx_version : 3 Tx_start : 105705115 Tx_end : 105708027 Exon_count : 3 Overlapped_tx_length : 2912 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105705115 Intersect_end : 105708027 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984467Gene_name : LOC107984467; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_001749160 Tx_version : 2 Tx_start : 92389744 Tx_end : 92397304 Exon_count : 3 Overlapped_tx_length : 7560 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92389744 Intersect_end : 92397304 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272; chr12:92354247-92404560 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370034Gene_name : LOC105370034; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_001749356 Tx_version : 2 Tx_start : 121664123 Tx_end : 121690702 Exon_count : 3 Overlapped_tx_length : 26579 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121664123 Intersect_end : 121690702 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100287944Gene_name : LOC100287944; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_040246 Tx_version : 1 Tx_start : 106496409 Tx_end : 106774831 Exon_count : 4 Overlapped_tx_length : 278422 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106496409 Intersect_end : 106774831 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Charcot-Marie-Tooth_disease,_demyelinating,_IIA_1I; Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903077Gene_name : LOC124903077; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063583 Tx_version : 1 Tx_start : 108190961 Tx_end : 108240453 Exon_count : 3 Overlapped_tx_length : 49492 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108190961 Intersect_end : 108240453 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369872Gene_name : LOC105369872; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_945148 Tx_version : 3 Tx_start : 81344077 Tx_end : 81353236 Exon_count : 4 Overlapped_tx_length : 9159 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 81344077 Intersect_end : 81353236 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369811Gene_name : LOC105369811; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_007063352 Tx_version : 1 Tx_start : 66357137 Tx_end : 66371833 Exon_count : 4 Overlapped_tx_length : 14696 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66357137 Intersect_end : 66371833 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902960Gene_name : LOC124902960; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_007063361 Tx_version : 1 Tx_start : 70719195 Tx_end : 70773797 Exon_count : 2 Overlapped_tx_length : 54602 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 70719195 Intersect_end : 70773797 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369895Gene_name : LOC105369895; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_945187 Tx_version : 2 Tx_start : 90762143 Tx_end : 90809151 Exon_count : 3 Overlapped_tx_length : 47008 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 90762143 Intersect_end : 90809151 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272; chr12:90671856-90815959 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984535Gene_name : LOC107984535; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_001749226 Tx_version : 2 Tx_start : 81093797 Tx_end : 81125858 Exon_count : 4 Overlapped_tx_length : 32061 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 81093797 Intersect_end : 81125858 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369746Gene_name : LOC105369746; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_007063288 Tx_version : 1 Tx_start : 47237670 Tx_end : 47250461 Exon_count : 2 Overlapped_tx_length : 12791 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47237670 Intersect_end : 47250461 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369965Gene_name : LOC105369965; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_001749312 Tx_version : 2 Tx_start : 108184568 Tx_end : 108187819 Exon_count : 3 Overlapped_tx_length : 3251 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108184568 Intersect_end : 108187819 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369745Gene_name : LOC105369745; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_944892 Tx_version : 3 Tx_start : 45825899 Tx_end : 45849646 Exon_count : 4 Overlapped_tx_length : 23747 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45825899 Intersect_end : 45849646 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:45836590-45839496P_loss_coord : 12:45836590-45839496 P_loss_source : dbVar:nssv18326336 P_loss_phen : . P_loss_hpo : . |
10P_snvindel_nb : 10 P_snvindel_phen : ARID2-related_BAFopathy; Coffin-Siris_syndrome_6; Inborn_genetic_diseases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369801Gene_name : LOC105369801; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : XR_945023 Tx_version : 3 Tx_start : 63995704 Tx_end : 64019779 Exon_count : 5 Overlapped_tx_length : 24075 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 63995704 Intersect_end : 64019779 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370080Gene_name : LOC105370080; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_001749396 Tx_version : 2 Tx_start : 130756966 Tx_end : 130763123 Exon_count : 5 Overlapped_tx_length : 6157 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130756966 Intersect_end : 130763123 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC112268095Gene_name : LOC112268095; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_002957410 Tx_version : 2 Tx_start : 40072517 Tx_end : 40085135 Exon_count : 3 Overlapped_tx_length : 12618 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40072517 Intersect_end : 40085135 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369764Gene_name : LOC105369764; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_001749143 Tx_version : 2 Tx_start : 49964501 Tx_end : 49975505 Exon_count : 3 Overlapped_tx_length : 11004 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49964501 Intersect_end : 49975505 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC283387Gene_name : LOC283387; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_148947 Tx_version : 1 Tx_start : 57869834 Tx_end : 57896482 Exon_count : 4 Overlapped_tx_length : 26648 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57869834 Intersect_end : 57896482 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370005Gene_name : LOC105370005; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_945392 Tx_version : 2 Tx_start : 116340295 Tx_end : 116350727 Exon_count : 3 Overlapped_tx_length : 10432 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116340295 Intersect_end : 116350727 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369963Gene_name : LOC105369963; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_945316 Tx_version : 2 Tx_start : 107794500 Tx_end : 107799183 Exon_count : 4 Overlapped_tx_length : 4683 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107794500 Intersect_end : 107799183 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369912Gene_name : LOC105369912; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_001749263 Tx_version : 2 Tx_start : 93969675 Tx_end : 94011343 Exon_count : 3 Overlapped_tx_length : 41668 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93969675 Intersect_end : 94011343 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC128125816Gene_name : LOC128125816; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001414998 Tx_version : 1 Tx_start : 122226429 Tx_end : 122226564 Exon_count : 1 Overlapped_tx_length : 135 Overlapped_CDS_length : 135 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122226429 Intersect_end : 122226564 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100128002Gene_name : LOC100128002; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_158870 Tx_version : 6 Tx_start : 131295390 Tx_end : 131297095 Exon_count : 1 Overlapped_tx_length : 1705 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131295390 Intersect_end : 131297095 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:[...]B_loss_source : 1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:40088; dbVar; dgv29e203 B_loss_coord : chr12:131245620-131344309; 12:131245621-131344309; 12:131245689-131344294; chr12:131245692-131344294; 12:131245804-131340783; 12:131247400-131341210 B_loss_AFmax : 0.0120 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903020Gene_name : LOC124903020; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : UTR Tx : XR_007063463 Tx_version : 1 Tx_start : 111648957 Tx_end : 111649836 Exon_count : 2 Overlapped_tx_length : 879 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111648957 Intersect_end : 111649836 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC128071547Gene_name : LOC128071547; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001414895 Tx_version : 1 Tx_start : 120534696 Tx_end : 120534957 Exon_count : 1 Overlapped_tx_length : 261 Overlapped_CDS_length : 261 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120534696 Intersect_end : 120534957 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370029Gene_name : LOC105370029; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_945449 Tx_version : 3 Tx_start : 120676175 Tx_end : 120687149 Exon_count : 3 Overlapped_tx_length : 10974 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120676175 Intersect_end : 120687149 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903040Gene_name : LOC124903040; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063501 Tx_version : 1 Tx_start : 122834554 Tx_end : 122835233 Exon_count : 2 Overlapped_tx_length : 679 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122834554 Intersect_end : 122835233 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369833Gene_name : LOC105369833; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_001749200 Tx_version : 2 Tx_start : 71527407 Tx_end : 71575195 Exon_count : 4 Overlapped_tx_length : 47788 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71527407 Intersect_end : 71575195 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369969Gene_name : LOC105369969; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_945328 Tx_version : 4 Tx_start : 108733408 Tx_end : 108754152 Exon_count : 3 Overlapped_tx_length : 20744 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108733408 Intersect_end : 108754152 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101927241Gene_name : LOC101927241; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_245978 Tx_version : 4 Tx_start : 48813761 Tx_end : 48816932 Exon_count : 3 Overlapped_tx_length : 3171 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48813761 Intersect_end : 48816932 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903119Gene_name : LOC124903119; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007063651 Tx_version : 1 Tx_start : 101358747 Tx_end : 101358849 Exon_count : 1 Overlapped_tx_length : 102 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101358747 Intersect_end : 101358849 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902988Gene_name : LOC124902988; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063411 Tx_version : 1 Tx_start : 94168004 Tx_end : 94176463 Exon_count : 2 Overlapped_tx_length : 8459 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94168004 Intersect_end : 94176463 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900322Gene_name : LOC124900322; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_007063625 Tx_version : 1 Tx_start : 47346165 Tx_end : 47346297 Exon_count : 1 Overlapped_tx_length : 132 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47346165 Intersect_end : 47346297 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:47332217-47419217 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903106Gene_name : LOC124903106; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063643 Tx_version : 1 Tx_start : 103720941 Tx_end : 103721044 Exon_count : 1 Overlapped_tx_length : 103 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103720941 Intersect_end : 103721044 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902982Gene_name : LOC124902982; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_007063402 Tx_version : 1 Tx_start : 90323448 Tx_end : 90327658 Exon_count : 2 Overlapped_tx_length : 4210 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 90323448 Intersect_end : 90327658 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:90284222-90686223 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903113Gene_name : LOC124903113; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_007063648 Tx_version : 1 Tx_start : 64760867 Tx_end : 64760973 Exon_count : 1 Overlapped_tx_length : 106 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64760867 Intersect_end : 64760973 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903007Gene_name : LOC124903007; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063442 Tx_version : 1 Tx_start : 106123717 Tx_end : 106124730 Exon_count : 2 Overlapped_tx_length : 1013 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106123717 Intersect_end : 106124730 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100652999Gene_name : LOC100652999; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_046221 Tx_version : 1 Tx_start : 53513983 Tx_end : 53517608 Exon_count : 3 Overlapped_tx_length : 3625 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53513983 Intersect_end : 53517608 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903079Gene_name : LOC124903079; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_007063586 Tx_version : 1 Tx_start : 114928101 Tx_end : 114933582 Exon_count : 2 Overlapped_tx_length : 5481 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114928101 Intersect_end : 114933582 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903110Gene_name : LOC124903110; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_007063646 Tx_version : 1 Tx_start : 48960737 Tx_end : 48960836 Exon_count : 1 Overlapped_tx_length : 99 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48960737 Intersect_end : 48960836 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369915Gene_name : LOC105369915; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_001749264 Tx_version : 2 Tx_start : 94897091 Tx_end : 94928258 Exon_count : 3 Overlapped_tx_length : 31167 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94897091 Intersect_end : 94928258 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369930Gene_name : LOC105369930; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_945255 Tx_version : 3 Tx_start : 97269800 Tx_end : 97271556 Exon_count : 3 Overlapped_tx_length : 1756 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97269800 Intersect_end : 97271556 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_026655 Tx_version : 1 Tx_start : 54058253 Tx_end : 54122234 Exon_count : 2 Overlapped_tx_length : 63981 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54058253 Intersect_end : 54122234 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902929Gene_name : LOC124902929; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_007063299 Tx_version : 1 Tx_start : 49707725 Tx_end : 49731449 Exon_count : 3 Overlapped_tx_length : 23724 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49707725 Intersect_end : 49731449 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369763Gene_name : LOC105369763; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_001749129 Tx_version : 2 Tx_start : 49943244 Tx_end : 49946923 Exon_count : 3 Overlapped_tx_length : 3679 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49943244 Intersect_end : 49946923 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC102724030Gene_name : LOC102724030; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_187804 Tx_version : 1 Tx_start : 54163115 Tx_end : 54168595 Exon_count : 3 Overlapped_tx_length : 5480 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54163115 Intersect_end : 54168595 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105378255Gene_name : LOC105378255; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_945169 Tx_version : 1 Tx_start : 89222378 Tx_end : 89230010 Exon_count : 2 Overlapped_tx_length : 7632 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89222378 Intersect_end : 89230010 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902924Gene_name : LOC124902924; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_007063285 Tx_version : 1 Tx_start : 46941489 Tx_end : 46949228 Exon_count : 2 Overlapped_tx_length : 7739 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46941489 Intersect_end : 46949228 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903048Gene_name : LOC124903048; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_007063515 Tx_version : 1 Tx_start : 126404926 Tx_end : 126407425 Exon_count : 2 Overlapped_tx_length : 2499 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126404926 Intersect_end : 126407425 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126376969-126454930 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903032Gene_name : LOC124903032; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_007063483 Tx_version : 1 Tx_start : 119260739 Tx_end : 119266242 Exon_count : 2 Overlapped_tx_length : 5503 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119260739 Intersect_end : 119266242 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902950Gene_name : LOC124902950; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_007063341 Tx_version : 1 Tx_start : 62128947 Tx_end : 62137474 Exon_count : 2 Overlapped_tx_length : 8527 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62128947 Intersect_end : 62137474 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900324Gene_name : LOC124900324; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063628 Tx_version : 1 Tx_start : 107374746 Tx_end : 107374829 Exon_count : 1 Overlapped_tx_length : 83 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107374746 Intersect_end : 107374829 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902952Gene_name : LOC124902952; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : XR_007063347 Tx_version : 1 Tx_start : 64222348 Tx_end : 64229238 Exon_count : 2 Overlapped_tx_length : 6890 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64222348 Intersect_end : 64229238 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370031Gene_name : LOC105370031; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_945457 Tx_version : 2 Tx_start : 121100689 Tx_end : 121108922 Exon_count : 3 Overlapped_tx_length : 8233 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121100689 Intersect_end : 121108922 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; dbVar; esv3630934B_loss_source : 1000g; dbVar; esv3630934 B_loss_coord : chr12:121063111-121157572; 12:121063112-121157572; 12:121063112-121157572 B_loss_AFmax : 0.1646 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC112268096Gene_name : LOC112268096; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_007063312 Tx_version : 1 Tx_start : 52089211 Tx_end : 52118218 Exon_count : 4 Overlapped_tx_length : 29007 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52089211 Intersect_end : 52118218 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369991Gene_name : LOC105369991; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : XR_945349 Tx_version : 2 Tx_start : 113653634 Tx_end : 113656000 Exon_count : 3 Overlapped_tx_length : 2366 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113653634 Intersect_end : 113656000 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:113643005-113669147 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903098Gene_name : LOC124903098; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : XR_007063623 Tx_version : 1 Tx_start : 64575664 Tx_end : 64575741 Exon_count : 1 Overlapped_tx_length : 77 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64575664 Intersect_end : 64575741 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC414300Gene_name : LOC414300; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_121211 Tx_version : 1 Tx_start : 105102471 Tx_end : 105107642 Exon_count : 2 Overlapped_tx_length : 5171 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105102471 Intersect_end : 105107642 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100240735Gene_name : LOC100240735; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_026658 Tx_version : 1 Tx_start : 54078838 Tx_end : 54081823 Exon_count : 3 Overlapped_tx_length : 2985 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54078838 Intersect_end : 54081823 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369747Gene_name : LOC105369747; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : NR_135024 Tx_version : 1 Tx_start : 47305916 Tx_end : 47307399 Exon_count : 2 Overlapped_tx_length : 1483 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47305916 Intersect_end : 47307399 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370066Gene_name : LOC105370066; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_945526 Tx_version : 2 Tx_start : 127459947 Tx_end : 127470490 Exon_count : 3 Overlapped_tx_length : 10543 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127459947 Intersect_end : 127470490 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:127332858-127525302 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369744Gene_name : LOC105369744; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_944889 Tx_version : 2 Tx_start : 45595825 Tx_end : 45610646 Exon_count : 3 Overlapped_tx_length : 14821 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45595825 Intersect_end : 45610646 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369793Gene_name : LOC105369793; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_945013 Tx_version : 4 Tx_start : 61663446 Tx_end : 61702767 Exon_count : 7 Overlapped_tx_length : 39321 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 61663446 Intersect_end : 61702767 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370074Gene_name : LOC105370074; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063613 Tx_version : 1 Tx_start : 129458404 Tx_end : 129468645 Exon_count : 6 Overlapped_tx_length : 10241 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129458404 Intersect_end : 129468645 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903080Gene_name : LOC124903080; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_007063587 Tx_version : 1 Tx_start : 114948159 Tx_end : 114969861 Exon_count : 3 Overlapped_tx_length : 21702 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114948159 Intersect_end : 114969861 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370008Gene_name : LOC105370008; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : XR_945395 Tx_version : 3 Tx_start : 116505008 Tx_end : 116508416 Exon_count : 3 Overlapped_tx_length : 3408 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116505008 Intersect_end : 116508416 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105378248Gene_name : LOC105378248; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_001749101 Tx_version : 1 Tx_start : 46269070 Tx_end : 46278613 Exon_count : 2 Overlapped_tx_length : 9543 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46269070 Intersect_end : 46278613 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369892Gene_name : LOC105369892; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_945183 Tx_version : 1 Tx_start : 90253824 Tx_end : 90263894 Exon_count : 3 Overlapped_tx_length : 10070 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 90253824 Intersect_end : 90263894 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902932Gene_name : LOC124902932; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_007063306 Tx_version : 1 Tx_start : 50743575 Tx_end : 50757650 Exon_count : 2 Overlapped_tx_length : 14075 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50743575 Intersect_end : 50757650 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900332Gene_name : LOC124900332; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063634 Tx_version : 1 Tx_start : 71639354 Tx_end : 71639483 Exon_count : 1 Overlapped_tx_length : 129 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71639354 Intersect_end : 71639483 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902963Gene_name : LOC124902963; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063365 Tx_version : 1 Tx_start : 71576942 Tx_end : 71583530 Exon_count : 3 Overlapped_tx_length : 6588 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71576942 Intersect_end : 71583530 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903028Gene_name : LOC124903028; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : XR_007063474 Tx_version : 1 Tx_start : 116657620 Tx_end : 116662829 Exon_count : 3 Overlapped_tx_length : 5209 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116657620 Intersect_end : 116662829 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369823Gene_name : LOC105369823; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_007063357 Tx_version : 1 Tx_start : 69624582 Tx_end : 69689076 Exon_count : 4 Overlapped_tx_length : 64494 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69624582 Intersect_end : 69689076 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369904Gene_name : LOC105369904; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_945210 Tx_version : 3 Tx_start : 92505637 Tx_end : 92512128 Exon_count : 4 Overlapped_tx_length : 6491 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92505637 Intersect_end : 92512128 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903026Gene_name : LOC124903026; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_007063470 Tx_version : 1 Tx_start : 114621396 Tx_end : 114622924 Exon_count : 2 Overlapped_tx_length : 1528 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114621396 Intersect_end : 114622924 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:114619467-114652586 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902918Gene_name : LOC124902918; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063277 Tx_version : 1 Tx_start : 39546265 Tx_end : 39549982 Exon_count : 2 Overlapped_tx_length : 3717 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39546265 Intersect_end : 39549982 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984448Gene_name : LOC107984448; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_001749384 Tx_version : 1 Tx_start : 126392742 Tx_end : 126396066 Exon_count : 3 Overlapped_tx_length : 3324 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126392742 Intersect_end : 126396066 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126376969-126454930 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369878Gene_name : LOC105369878; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : XR_001749241 Tx_version : 1 Tx_start : 87041915 Tx_end : 87187540 Exon_count : 3 Overlapped_tx_length : 145625 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 87041915 Intersect_end : 87187540 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:86905634-87204195 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369994Gene_name : LOC105369994; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_945358 Tx_version : 2 Tx_start : 114073200 Tx_end : 114077026 Exon_count : 3 Overlapped_tx_length : 3826 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114073200 Intersect_end : 114077026 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902972Gene_name : LOC124902972; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063383 Tx_version : 1 Tx_start : 77378253 Tx_end : 77390864 Exon_count : 2 Overlapped_tx_length : 12611 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 77378253 Intersect_end : 77390864 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903075Gene_name : LOC124903075; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_007063579 Tx_version : 1 Tx_start : 91252443 Tx_end : 91253597 Exon_count : 2 Overlapped_tx_length : 1154 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91252443 Intersect_end : 91253597 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902914Gene_name : LOC124902914; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_007063270 Tx_version : 1 Tx_start : 32650497 Tx_end : 32652359 Exon_count : 2 Overlapped_tx_length : 1862 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 32650497 Intersect_end : 32652359 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902993Gene_name : LOC124902993; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_007063418 Tx_version : 1 Tx_start : 97025304 Tx_end : 97036895 Exon_count : 3 Overlapped_tx_length : 11591 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97025304 Intersect_end : 97036895 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369908Gene_name : LOC105369908; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_188216 Tx_version : 1 Tx_start : 93090479 Tx_end : 93108614 Exon_count : 6 Overlapped_tx_length : 18135 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93090479 Intersect_end : 93108614 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903069Gene_name : LOC124903069; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063563 Tx_version : 1 Tx_start : 41183029 Tx_end : 41188232 Exon_count : 2 Overlapped_tx_length : 5203 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41183029 Intersect_end : 41188232 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984447Gene_name : LOC107984447; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_001749374 Tx_version : 2 Tx_start : 126110616 Tx_end : 126166228 Exon_count : 4 Overlapped_tx_length : 55612 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126110616 Intersect_end : 126166228 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903057Gene_name : LOC124903057; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063535 Tx_version : 1 Tx_start : 131670986 Tx_end : 131673398 Exon_count : 2 Overlapped_tx_length : 2412 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131670986 Intersect_end : 131673398 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370077Gene_name : LOC105370077; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_945550 Tx_version : 1 Tx_start : 130067242 Tx_end : 130071281 Exon_count : 4 Overlapped_tx_length : 4039 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130067242 Intersect_end : 130071281 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369803Gene_name : LOC105369803; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : NR_188079 Tx_version : 1 Tx_start : 64506115 Tx_end : 64537180 Exon_count : 4 Overlapped_tx_length : 31065 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64506115 Intersect_end : 64537180 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902949Gene_name : LOC124902949; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_007063337 Tx_version : 1 Tx_start : 58588283 Tx_end : 58590537 Exon_count : 3 Overlapped_tx_length : 2254 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58588283 Intersect_end : 58590537 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984545Gene_name : LOC107984545; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_001749267 Tx_version : 2 Tx_start : 95407938 Tx_end : 95448699 Exon_count : 7 Overlapped_tx_length : 40761 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95407938 Intersect_end : 95448699 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984470Gene_name : LOC107984470; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_001749064 Tx_version : 3 Tx_start : 31779061 Tx_end : 31786107 Exon_count : 3 Overlapped_tx_length : 7046 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31779061 Intersect_end : 31786107 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902962Gene_name : LOC124902962; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063364 Tx_version : 1 Tx_start : 71430073 Tx_end : 71450832 Exon_count : 3 Overlapped_tx_length : 20759 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71430073 Intersect_end : 71450832 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903021Gene_name : LOC124903021; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : XR_007063464 Tx_version : 1 Tx_start : 112018798 Tx_end : 112022150 Exon_count : 2 Overlapped_tx_length : 3352 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112018798 Intersect_end : 112022150 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100506551Gene_name : LOC100506551; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : NR_103809 Tx_version : 1 Tx_start : 116977439 Tx_end : 116987337 Exon_count : 4 Overlapped_tx_length : 9898 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 116977439 Intersect_end : 116987337 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369816Gene_name : LOC105369816; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_945051 Tx_version : 3 Tx_start : 67670919 Tx_end : 67685150 Exon_count : 2 Overlapped_tx_length : 14231 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67670919 Intersect_end : 67685150 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902991Gene_name : LOC124902991; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_007063414 Tx_version : 1 Tx_start : 96231283 Tx_end : 96235596 Exon_count : 2 Overlapped_tx_length : 4313 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 96231283 Intersect_end : 96235596 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984544Gene_name : LOC107984544; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_001749252 Tx_version : 2 Tx_start : 91309386 Tx_end : 91316454 Exon_count : 3 Overlapped_tx_length : 7068 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91309386 Intersect_end : 91316454 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984433Gene_name : LOC107984433; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_001749292 Tx_version : 2 Tx_start : 103841381 Tx_end : 103848799 Exon_count : 2 Overlapped_tx_length : 7418 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103841381 Intersect_end : 103848799 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369742Gene_name : LOC105369742; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_944885 Tx_version : 3 Tx_start : 45035042 Tx_end : 45045700 Exon_count : 3 Overlapped_tx_length : 10658 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45035042 Intersect_end : 45045700 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902939Gene_name : LOC124902939; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_007063323 Tx_version : 1 Tx_start : 54016012 Tx_end : 54017747 Exon_count : 2 Overlapped_tx_length : 1735 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54016012 Intersect_end : 54017747 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:38725; esv2672088B_loss_source : DDD:38725; esv2672088 B_loss_coord : 12:54008062-54019908; 12:54008218-54019716 B_loss_AFmax : 0.0333 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369842Gene_name : LOC105369842; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_001749205 Tx_version : 2 Tx_start : 74847423 Tx_end : 74934381 Exon_count : 6 Overlapped_tx_length : 86958 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 74847423 Intersect_end : 74934381 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC112268101Gene_name : LOC112268101; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_002957434 Tx_version : 2 Tx_start : 119137811 Tx_end : 119151095 Exon_count : 3 Overlapped_tx_length : 13284 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119137811 Intersect_end : 119151095 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903006Gene_name : LOC124903006; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063439 Tx_version : 1 Tx_start : 105556623 Tx_end : 105579437 Exon_count : 2 Overlapped_tx_length : 22814 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105556623 Intersect_end : 105579437 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903086Gene_name : LOC124903086; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063612 Tx_version : 1 Tx_start : 129073755 Tx_end : 129082775 Exon_count : 3 Overlapped_tx_length : 9020 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129073755 Intersect_end : 129082775 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984521Gene_name : LOC107984521; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : XR_007063348 Tx_version : 1 Tx_start : 64580614 Tx_end : 64584250 Exon_count : 2 Overlapped_tx_length : 3636 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64580614 Intersect_end : 64584250 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984476Gene_name : LOC107984476; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_001749063 Tx_version : 1 Tx_start : 30869146 Tx_end : 30880389 Exon_count : 4 Overlapped_tx_length : 11243 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 30869146 Intersect_end : 30880389 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC122455340Gene_name : LOC122455340; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : 5'UTR-3'UTR Tx : NM_001395962 Tx_version : 1 Tx_start : 53241899 Tx_end : 53242722 Exon_count : 1 Overlapped_tx_length : 823 Overlapped_CDS_length : 519 Overlapped_CDS_percent : 64 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53241899 Intersect_end : 53242722 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369919Gene_name : LOC105369919; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_001749273 Tx_version : 2 Tx_start : 95713350 Tx_end : 95734826 Exon_count : 3 Overlapped_tx_length : 21476 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95713350 Intersect_end : 95734826 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
BLOC1S1-RDH5Gene_name : BLOC1S1-RDH5; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : NR_037658 Tx_version : 1 Tx_start : 55716033 Tx_end : 55724742 Exon_count : 6 Overlapped_tx_length : 8709 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55716033 Intersect_end : 55724742 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:55720393-55724705P_loss_coord : 12:55720393-55724705 P_loss_source : morbid:RDH5 P_loss_phen : Fundus albipunctatus, 136880 (3) AR,AD P_loss_hpo : . |
32P_snvindel_nb : 32 P_snvindel_phen : Congenital_stationary_night_blindness; Fundus_albipunctatus,_autosomal_recessive; Pigmentary_retinal_dystrophy; RDH5-related_condition; Retinal_dystrophy; Retinitis_punctata_albescens; See_cases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101927436Gene_name : LOC101927436; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_242964 Tx_version : 4 Tx_start : 124605022 Tx_end : 124609144 Exon_count : 4 Overlapped_tx_length : 4122 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124605022 Intersect_end : 124609144 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101927180Gene_name : LOC101927180; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_047429952 Tx_version : 1 Tx_start : 48084453 Tx_end : 48087173 Exon_count : 1 Overlapped_tx_length : 2720 Overlapped_CDS_length : 360 Overlapped_CDS_percent : 17 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48084453 Intersect_end : 48087173 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101928002Gene_name : LOC101928002; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_110072 Tx_version : 2 Tx_start : 69713634 Tx_end : 69738550 Exon_count : 4 Overlapped_tx_length : 24916 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 69713634 Intersect_end : 69738550 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369961Gene_name : LOC105369961; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_001749306 Tx_version : 2 Tx_start : 106869007 Tx_end : 106881339 Exon_count : 3 Overlapped_tx_length : 12332 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106869007 Intersect_end : 106881339 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369914Gene_name : LOC105369914; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_945225 Tx_version : 4 Tx_start : 94646437 Tx_end : 94651002 Exon_count : 2 Overlapped_tx_length : 4565 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94646437 Intersect_end : 94651002 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369786Gene_name : LOC105369786; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_945004 Tx_version : 3 Tx_start : 58176535 Tx_end : 58177994 Exon_count : 3 Overlapped_tx_length : 1459 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58176535 Intersect_end : 58177994 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903029Gene_name : LOC124903029; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_007063478 Tx_version : 1 Tx_start : 118101604 Tx_end : 118103582 Exon_count : 2 Overlapped_tx_length : 1978 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118101604 Intersect_end : 118103582 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:118100817-118112226 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370087Gene_name : LOC105370087; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_001749183 Tx_version : 1 Tx_start : 131677707 Tx_end : 131692697 Exon_count : 3 Overlapped_tx_length : 14990 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131677707 Intersect_end : 131692697 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370025Gene_name : LOC105370025; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_945436 Tx_version : 2 Tx_start : 119224048 Tx_end : 119250464 Exon_count : 3 Overlapped_tx_length : 26416 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119224048 Intersect_end : 119250464 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903076Gene_name : LOC124903076; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063581 Tx_version : 1 Tx_start : 108178076 Tx_end : 108182332 Exon_count : 2 Overlapped_tx_length : 4256 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108178076 Intersect_end : 108182332 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984445Gene_name : LOC107984445; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_001749366 Tx_version : 2 Tx_start : 125284110 Tx_end : 125290400 Exon_count : 3 Overlapped_tx_length : 6290 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125284110 Intersect_end : 125290400 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:125282454-125290454 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902925Gene_name : LOC124902925; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_007063287 Tx_version : 1 Tx_start : 46956662 Tx_end : 46961874 Exon_count : 2 Overlapped_tx_length : 5212 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46956662 Intersect_end : 46961874 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369905Gene_name : LOC105369905; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_945211 Tx_version : 3 Tx_start : 92557283 Tx_end : 92630255 Exon_count : 3 Overlapped_tx_length : 72972 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92557283 Intersect_end : 92630255 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903036Gene_name : LOC124903036; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063491 Tx_version : 1 Tx_start : 120709932 Tx_end : 120710506 Exon_count : 2 Overlapped_tx_length : 574 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120709932 Intersect_end : 120710506 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903050Gene_name : LOC124903050; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_007063522 Tx_version : 1 Tx_start : 127284647 Tx_end : 127303790 Exon_count : 4 Overlapped_tx_length : 19143 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127284647 Intersect_end : 127303790 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126945957-127328431 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369999Gene_name : LOC105369999; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_945379 Tx_version : 3 Tx_start : 114733754 Tx_end : 114734755 Exon_count : 2 Overlapped_tx_length : 1001 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114733754 Intersect_end : 114734755 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369873Gene_name : LOC105369873; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_001749232 Tx_version : 1 Tx_start : 82134894 Tx_end : 82308315 Exon_count : 5 Overlapped_tx_length : 173421 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 82134894 Intersect_end : 82308315 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105378247Gene_name : LOC105378247; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_944875 Tx_version : 4 Tx_start : 41987434 Tx_end : 42026602 Exon_count : 4 Overlapped_tx_length : 39168 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41987434 Intersect_end : 42026602 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902947Gene_name : LOC124902947; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : XR_007063335 Tx_version : 1 Tx_start : 57457441 Tx_end : 57462972 Exon_count : 2 Overlapped_tx_length : 5531 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57457441 Intersect_end : 57462972 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903031Gene_name : LOC124903031; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_007063480 Tx_version : 1 Tx_start : 118375297 Tx_end : 118376127 Exon_count : 2 Overlapped_tx_length : 830 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118375297 Intersect_end : 118376127 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:118301155-118386425 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984466Gene_name : LOC107984466; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_001749082 Tx_version : 2 Tx_start : 46970091 Tx_end : 46972290 Exon_count : 3 Overlapped_tx_length : 2199 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46970091 Intersect_end : 46972290 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902998Gene_name : LOC124902998; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007063426 Tx_version : 1 Tx_start : 102203254 Tx_end : 102210744 Exon_count : 2 Overlapped_tx_length : 7490 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102203254 Intersect_end : 102210744 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:102057222-102377222 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902944Gene_name : LOC124902944; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : XR_007063331 Tx_version : 1 Tx_start : 56486839 Tx_end : 56487332 Exon_count : 2 Overlapped_tx_length : 493 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56486839 Intersect_end : 56487332 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC102725258Gene_name : LOC102725258; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_001749121 Tx_version : 3 Tx_start : 48198360 Tx_end : 48234716 Exon_count : 3 Overlapped_tx_length : 36356 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48198360 Intersect_end : 48234716 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984449Gene_name : LOC107984449; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : 5'UTR-3'UTR Tx : XM_024449289 Tx_version : 2 Tx_start : 127060500 Tx_end : 127149136 Exon_count : 3 Overlapped_tx_length : 88636 Overlapped_CDS_length : 552 Overlapped_CDS_percent : 17 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127060500 Intersect_end : 127149136 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369806Gene_name : LOC105369806; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_945028 Tx_version : 3 Tx_start : 65622295 Tx_end : 65629859 Exon_count : 4 Overlapped_tx_length : 7564 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65622295 Intersect_end : 65629859 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370084Gene_name : LOC105370084; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_945565 Tx_version : 2 Tx_start : 131583581 Tx_end : 131591730 Exon_count : 3 Overlapped_tx_length : 8149 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131583581 Intersect_end : 131591730 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:131476654-131611967; chr12:131575333-131604873 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900318Gene_name : LOC124900318; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063621 Tx_version : 1 Tx_start : 103592111 Tx_end : 103592243 Exon_count : 1 Overlapped_tx_length : 132 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103592111 Intersect_end : 103592243 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369789Gene_name : LOC105369789; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_945007 Tx_version : 3 Tx_start : 58551088 Tx_end : 58557327 Exon_count : 3 Overlapped_tx_length : 6239 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58551088 Intersect_end : 58557327 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902931Gene_name : LOC124902931; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_007063304 Tx_version : 1 Tx_start : 50143199 Tx_end : 50165623 Exon_count : 2 Overlapped_tx_length : 22424 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50143199 Intersect_end : 50165623 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903014Gene_name : LOC124903014; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063457 Tx_version : 1 Tx_start : 110369821 Tx_end : 110372600 Exon_count : 2 Overlapped_tx_length : 2779 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110369821 Intersect_end : 110372600 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:110369746-110372780 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369867Gene_name : LOC105369867; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_007063388 Tx_version : 1 Tx_start : 80530573 Tx_end : 80707238 Exon_count : 5 Overlapped_tx_length : 176665 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80530573 Intersect_end : 80707238 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:80669007-80669463P_loss_coord : 12:80669007-80669463 P_loss_source : dbVar:nssv17956485 P_loss_phen : . P_loss_hpo : . |
5P_snvindel_nb : 5 P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_84A; Hearing_impairment; Impaired_vibration_sensation_in_the_lower_limbs; Loss_of_ambulation; Pain; Pes_cavus; Pes_planus; Unsteady_gait |
dbVarB_loss_source : dbVar B_loss_coord : chr12:80502697-80806958 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984478Gene_name : LOC107984478; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : XR_001749242 Tx_version : 3 Tx_start : 87332916 Tx_end : 87388224 Exon_count : 3 Overlapped_tx_length : 55308 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 87332916 Intersect_end : 87388224 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902978Gene_name : LOC124902978; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : XR_007063396 Tx_version : 1 Tx_start : 88379308 Tx_end : 88419279 Exon_count : 2 Overlapped_tx_length : 39971 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88379308 Intersect_end : 88419279 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902994Gene_name : LOC124902994; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_007063420 Tx_version : 1 Tx_start : 98474549 Tx_end : 98476995 Exon_count : 2 Overlapped_tx_length : 2446 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98474549 Intersect_end : 98476995 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984522Gene_name : LOC107984522; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_001749177 Tx_version : 2 Tx_start : 64987700 Tx_end : 64990646 Exon_count : 2 Overlapped_tx_length : 2946 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64987700 Intersect_end : 64990646 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:64982435-65027759 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903015Gene_name : LOC124903015; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063458 Tx_version : 1 Tx_start : 110496202 Tx_end : 110499825 Exon_count : 2 Overlapped_tx_length : 3623 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110496202 Intersect_end : 110499825 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902984Gene_name : LOC124902984; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063407 Tx_version : 1 Tx_start : 92777599 Tx_end : 92777936 Exon_count : 2 Overlapped_tx_length : 337 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92777599 Intersect_end : 92777936 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370017Gene_name : LOC105370017; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_001749169 Tx_version : 1 Tx_start : 118781039 Tx_end : 118786369 Exon_count : 3 Overlapped_tx_length : 5330 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118781039 Intersect_end : 118786369 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900327Gene_name : LOC124900327; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063630 Tx_version : 1 Tx_start : 39819749 Tx_end : 39819883 Exon_count : 1 Overlapped_tx_length : 134 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39819749 Intersect_end : 39819883 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816; chr12:39815458-39830188 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369788Gene_name : LOC105369788; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_945006 Tx_version : 2 Tx_start : 58444556 Tx_end : 58463926 Exon_count : 4 Overlapped_tx_length : 19370 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58444556 Intersect_end : 58463926 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC102723340Gene_name : LOC102723340; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_001749275 Tx_version : 3 Tx_start : 95996481 Tx_end : 96011704 Exon_count : 3 Overlapped_tx_length : 15223 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95996481 Intersect_end : 96011704 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369874Gene_name : LOC105369874; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_945150 Tx_version : 3 Tx_start : 83457723 Tx_end : 83472432 Exon_count : 2 Overlapped_tx_length : 14709 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 83457723 Intersect_end : 83472432 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:83452720-83491721 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903019Gene_name : LOC124903019; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.12 Location2 : UTR Tx : XR_007063462 Tx_version : 1 Tx_start : 111432483 Tx_end : 111444745 Exon_count : 2 Overlapped_tx_length : 12262 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111432483 Intersect_end : 111444745 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902940Gene_name : LOC124902940; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : XR_007063324 Tx_version : 1 Tx_start : 55434733 Tx_end : 55452573 Exon_count : 2 Overlapped_tx_length : 17840 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55434733 Intersect_end : 55452573 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369784Gene_name : LOC105369784; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_001749166 Tx_version : 2 Tx_start : 58081207 Tx_end : 58097993 Exon_count : 4 Overlapped_tx_length : 16786 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58081207 Intersect_end : 58097993 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369993Gene_name : LOC105369993; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_945351 Tx_version : 2 Tx_start : 114011064 Tx_end : 114031052 Exon_count : 5 Overlapped_tx_length : 19988 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114011064 Intersect_end : 114031052 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903052Gene_name : LOC124903052; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_007063525 Tx_version : 1 Tx_start : 127777957 Tx_end : 127794764 Exon_count : 2 Overlapped_tx_length : 16807 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127777957 Intersect_end : 127794764 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:127777654-127798049 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984533Gene_name : LOC107984533; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_001749219 Tx_version : 2 Tx_start : 75649185 Tx_end : 75652489 Exon_count : 3 Overlapped_tx_length : 3304 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75649185 Intersect_end : 75652489 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903047Gene_name : LOC124903047; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_007063511 Tx_version : 1 Tx_start : 125858877 Tx_end : 125861629 Exon_count : 2 Overlapped_tx_length : 2752 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125858877 Intersect_end : 125861629 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369750Gene_name : LOC105369750; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_001749115 Tx_version : 3 Tx_start : 48014102 Tx_end : 48031448 Exon_count : 3 Overlapped_tx_length : 17346 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48014102 Intersect_end : 48031448 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984537Gene_name : LOC107984537; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_001749238 Tx_version : 2 Tx_start : 85464731 Tx_end : 85469635 Exon_count : 3 Overlapped_tx_length : 4904 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 85464731 Intersect_end : 85469635 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:85453624-85514323; chr12:85459992-85635487 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902996Gene_name : LOC124902996; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007063422 Tx_version : 1 Tx_start : 101659713 Tx_end : 101664369 Exon_count : 3 Overlapped_tx_length : 4656 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101659713 Intersect_end : 101664369 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902966Gene_name : LOC124902966; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063368 Tx_version : 1 Tx_start : 73363070 Tx_end : 73365201 Exon_count : 2 Overlapped_tx_length : 2131 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 73363070 Intersect_end : 73365201 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369859Gene_name : LOC105369859; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_945130 Tx_version : 2 Tx_start : 78335568 Tx_end : 78352686 Exon_count : 3 Overlapped_tx_length : 17118 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 78335568 Intersect_end : 78352686 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:78277506-78376367 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100996701Gene_name : LOC100996701; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : XM_011539090 Tx_version : 2 Tx_start : 131663773 Tx_end : 131664548 Exon_count : 1 Overlapped_tx_length : 775 Overlapped_CDS_length : 645 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131663773 Intersect_end : 131664548 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369808Gene_name : LOC105369808; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_945035 Tx_version : 3 Tx_start : 65556911 Tx_end : 65560998 Exon_count : 4 Overlapped_tx_length : 4087 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65556911 Intersect_end : 65560998 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902911Gene_name : LOC124902911; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_007063264 Tx_version : 1 Tx_start : 30918506 Tx_end : 30926689 Exon_count : 2 Overlapped_tx_length : 8183 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 30918506 Intersect_end : 30926689 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105378258Gene_name : LOC105378258; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063492 Tx_version : 1 Tx_start : 121059289 Tx_end : 121092995 Exon_count : 4 Overlapped_tx_length : 33706 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121059289 Intersect_end : 121092995 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902987Gene_name : LOC124902987; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063410 Tx_version : 1 Tx_start : 94234474 Tx_end : 94237803 Exon_count : 2 Overlapped_tx_length : 3329 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94234474 Intersect_end : 94237803 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902921Gene_name : LOC124902921; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063280 Tx_version : 1 Tx_start : 42303154 Tx_end : 42306552 Exon_count : 2 Overlapped_tx_length : 3398 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42303154 Intersect_end : 42306552 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902989Gene_name : LOC124902989; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063412 Tx_version : 1 Tx_start : 94703734 Tx_end : 94712438 Exon_count : 2 Overlapped_tx_length : 8704 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94703734 Intersect_end : 94712438 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370062Gene_name : LOC105370062; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_945515 Tx_version : 4 Tx_start : 127149954 Tx_end : 127182145 Exon_count : 4 Overlapped_tx_length : 32191 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127149954 Intersect_end : 127182145 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902928Gene_name : LOC124902928; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : 5'UTR-3'UTR Tx : XM_047429953 Tx_version : 1 Tx_start : 48638309 Tx_end : 48643651 Exon_count : 1 Overlapped_tx_length : 5342 Overlapped_CDS_length : 1044 Overlapped_CDS_percent : 59 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48638309 Intersect_end : 48643651 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369755Gene_name : LOC105369755; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_944925 Tx_version : 3 Tx_start : 48851720 Tx_end : 48852549 Exon_count : 2 Overlapped_tx_length : 829 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48851720 Intersect_end : 48852549 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107987180Gene_name : LOC107987180; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_001749233 Tx_version : 2 Tx_start : 82504294 Tx_end : 82515814 Exon_count : 3 Overlapped_tx_length : 11520 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 82504294 Intersect_end : 82515814 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903066Gene_name : LOC124903066; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_007063554 Tx_version : 1 Tx_start : 84360657 Tx_end : 84361976 Exon_count : 2 Overlapped_tx_length : 1319 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 84360657 Intersect_end : 84361976 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:84259810-84466487 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369832Gene_name : LOC105369832; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_001749199 Tx_version : 1 Tx_start : 71277351 Tx_end : 71315369 Exon_count : 3 Overlapped_tx_length : 38018 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71277351 Intersect_end : 71315369 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101927583Gene_name : LOC101927583; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : NR_120450 Tx_version : 1 Tx_start : 57618404 Tx_end : 57621903 Exon_count : 4 Overlapped_tx_length : 3499 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57618404 Intersect_end : 57621903 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369774Gene_name : LOC105369774; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_944973 Tx_version : 3 Tx_start : 53726578 Tx_end : 53731227 Exon_count : 3 Overlapped_tx_length : 4649 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53726578 Intersect_end : 53731227 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369844Gene_name : LOC105369844; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063375 Tx_version : 1 Tx_start : 75524260 Tx_end : 75834768 Exon_count : 16 Overlapped_tx_length : 310508 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75524260 Intersect_end : 75834768 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902948Gene_name : LOC124902948; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_007063336 Tx_version : 1 Tx_start : 57873840 Tx_end : 57890522 Exon_count : 2 Overlapped_tx_length : 16682 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57873840 Intersect_end : 57890522 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903078Gene_name : LOC124903078; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063585 Tx_version : 1 Tx_start : 108253897 Tx_end : 108264204 Exon_count : 2 Overlapped_tx_length : 10307 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108253897 Intersect_end : 108264204 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369767Gene_name : LOC105369767; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_944957 Tx_version : 3 Tx_start : 51322367 Tx_end : 51324008 Exon_count : 2 Overlapped_tx_length : 1641 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51322367 Intersect_end : 51324008 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370035Gene_name : LOC105370035; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_002957437 Tx_version : 2 Tx_start : 121856252 Tx_end : 121874337 Exon_count : 3 Overlapped_tx_length : 18085 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121856252 Intersect_end : 121874337 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:121857434-121858686P_loss_coord : 12:121857434-121858686 P_loss_source : dbVar:nssv18830870 P_loss_phen : . P_loss_hpo : . |
6P_snvindel_nb : 6 P_snvindel_phen : Hawkinsinuria; Tyrosinemia_type_III |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC112268087Gene_name : LOC112268087; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_002957391 Tx_version : 2 Tx_start : 119939390 Tx_end : 119975197 Exon_count : 4 Overlapped_tx_length : 35807 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119939390 Intersect_end : 119975197 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370052Gene_name : LOC105370052; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_001749365 Tx_version : 2 Tx_start : 125061274 Tx_end : 125083153 Exon_count : 4 Overlapped_tx_length : 21879 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125061274 Intersect_end : 125083153 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370050Gene_name : LOC105370050; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_945488 Tx_version : 3 Tx_start : 124864061 Tx_end : 124877577 Exon_count : 3 Overlapped_tx_length : 13516 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124864061 Intersect_end : 124877577 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900320Gene_name : LOC124900320; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063624 Tx_version : 1 Tx_start : 121107042 Tx_end : 121107174 Exon_count : 1 Overlapped_tx_length : 132 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121107042 Intersect_end : 121107174 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; dbVar; esv3630934B_loss_source : 1000g; dbVar; esv3630934 B_loss_coord : chr12:121063111-121157572; 12:121063112-121157572; 12:121063112-121157572 B_loss_AFmax : 0.1646 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902959Gene_name : LOC124902959; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_007063359 Tx_version : 1 Tx_start : 70063194 Tx_end : 70085135 Exon_count : 5 Overlapped_tx_length : 21941 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 70063194 Intersect_end : 70085135 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:70046702-70181584 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC112267865Gene_name : LOC112267865; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_945279 Tx_version : 3 Tx_start : 102927878 Tx_end : 102950845 Exon_count : 5 Overlapped_tx_length : 22967 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102927878 Intersect_end : 102950845 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369846Gene_name : LOC105369846; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_001749215 Tx_version : 2 Tx_start : 75772691 Tx_end : 75781465 Exon_count : 3 Overlapped_tx_length : 8774 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75772691 Intersect_end : 75781465 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984505Gene_name : LOC107984505; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_001749144 Tx_version : 2 Tx_start : 50283620 Tx_end : 50296467 Exon_count : 2 Overlapped_tx_length : 12847 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 50283620 Intersect_end : 50296467 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370054Gene_name : LOC105370054; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_945493 Tx_version : 3 Tx_start : 125272895 Tx_end : 125280816 Exon_count : 3 Overlapped_tx_length : 7921 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125272895 Intersect_end : 125280816 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370032Gene_name : LOC105370032; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_001749352 Tx_version : 3 Tx_start : 121125431 Tx_end : 121210072 Exon_count : 4 Overlapped_tx_length : 84641 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121125431 Intersect_end : 121210072 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370041Gene_name : LOC105370041; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063504 Tx_version : 1 Tx_start : 123613120 Tx_end : 123617762 Exon_count : 3 Overlapped_tx_length : 4642 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123613120 Intersect_end : 123617762 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903025Gene_name : LOC124903025; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : XR_007063468 Tx_version : 1 Tx_start : 113861970 Tx_end : 113867643 Exon_count : 2 Overlapped_tx_length : 5673 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 113861970 Intersect_end : 113867643 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903022Gene_name : LOC124903022; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : XR_007063465 Tx_version : 1 Tx_start : 112044652 Tx_end : 112056910 Exon_count : 2 Overlapped_tx_length : 12258 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112044652 Intersect_end : 112056910 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369850Gene_name : LOC105369850; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : NR_188081 Tx_version : 1 Tx_start : 76559901 Tx_end : 76615431 Exon_count : 4 Overlapped_tx_length : 55530 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76559901 Intersect_end : 76615431 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903108Gene_name : LOC124903108; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_007063645 Tx_version : 1 Tx_start : 100402144 Tx_end : 100402250 Exon_count : 1 Overlapped_tx_length : 106 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 100402144 Intersect_end : 100402250 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902915Gene_name : LOC124902915; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.1 Location2 : UTR Tx : XR_007063271 Tx_version : 1 Tx_start : 34054076 Tx_end : 34057180 Exon_count : 2 Overlapped_tx_length : 3104 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 34054076 Intersect_end : 34057180 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dgv278e199; esv2761043B_loss_source : dgv278e199; esv2761043 B_loss_coord : 12:33141565-34701563; 12:34053811-34064107 B_loss_AFmax : 0.0400 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369797Gene_name : LOC105369797; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : XR_945017 Tx_version : 2 Tx_start : 63545474 Tx_end : 63551553 Exon_count : 4 Overlapped_tx_length : 6079 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 63545474 Intersect_end : 63551553 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:63529497-63725471; chr12:63542220-63592220; chr12:63545378-63723455 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984487Gene_name : LOC107984487; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_001749145 Tx_version : 1 Tx_start : 82614227 Tx_end : 82626657 Exon_count : 3 Overlapped_tx_length : 12430 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 82614227 Intersect_end : 82626657 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369743Gene_name : LOC105369743; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_944886 Tx_version : 3 Tx_start : 45390691 Tx_end : 45568844 Exon_count : 7 Overlapped_tx_length : 178153 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 45390691 Intersect_end : 45568844 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : ANO6-related_condition; SCOTT_SYNDROME |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902976Gene_name : LOC124902976; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_007063391 Tx_version : 1 Tx_start : 84271290 Tx_end : 84294556 Exon_count : 2 Overlapped_tx_length : 23266 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 84271290 Intersect_end : 84294556 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:84204202-84297452; chr12:84259810-84466487 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902953Gene_name : LOC124902953; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_007063349 Tx_version : 1 Tx_start : 65164768 Tx_end : 65169416 Exon_count : 2 Overlapped_tx_length : 4648 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65164768 Intersect_end : 65169416 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369722Gene_name : LOC105369722; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_931497 Tx_version : 3 Tx_start : 31723788 Tx_end : 31728890 Exon_count : 3 Overlapped_tx_length : 5102 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31723788 Intersect_end : 31728890 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902958Gene_name : LOC124902958; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_007063355 Tx_version : 1 Tx_start : 67689028 Tx_end : 67694202 Exon_count : 2 Overlapped_tx_length : 5174 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67689028 Intersect_end : 67694202 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101929204Gene_name : LOC101929204; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063451 Tx_version : 1 Tx_start : 108802129 Tx_end : 108816345 Exon_count : 5 Overlapped_tx_length : 14216 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108802129 Intersect_end : 108816345 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369838Gene_name : LOC105369838; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_945088 Tx_version : 2 Tx_start : 72919909 Tx_end : 73042903 Exon_count : 7 Overlapped_tx_length : 122994 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 72919909 Intersect_end : 73042903 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369813Gene_name : LOC105369813; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_945047 Tx_version : 3 Tx_start : 67380980 Tx_end : 67388542 Exon_count : 3 Overlapped_tx_length : 7562 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67380980 Intersect_end : 67388542 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369777Gene_name : LOC105369777; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_944984 Tx_version : 2 Tx_start : 54189096 Tx_end : 54202333 Exon_count : 3 Overlapped_tx_length : 13237 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54189096 Intersect_end : 54202333 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984484Gene_name : LOC107984484; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_001749078 Tx_version : 1 Tx_start : 39058000 Tx_end : 39059928 Exon_count : 3 Overlapped_tx_length : 1928 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39058000 Intersect_end : 39059928 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903049Gene_name : LOC124903049; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_007063521 Tx_version : 1 Tx_start : 127206245 Tx_end : 127209956 Exon_count : 2 Overlapped_tx_length : 3711 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127206245 Intersect_end : 127209956 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902954Gene_name : LOC124902954; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_007063350 Tx_version : 1 Tx_start : 65358336 Tx_end : 65364590 Exon_count : 2 Overlapped_tx_length : 6254 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65358336 Intersect_end : 65364590 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369956Gene_name : LOC105369956; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_945297 Tx_version : 3 Tx_start : 105426324 Tx_end : 105444214 Exon_count : 3 Overlapped_tx_length : 17890 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105426324 Intersect_end : 105444214 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902945Gene_name : LOC124902945; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : XR_007063333 Tx_version : 1 Tx_start : 56977084 Tx_end : 56995394 Exon_count : 4 Overlapped_tx_length : 18310 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56977084 Intersect_end : 56995394 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369187Gene_name : LOC105369187; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_135033 Tx_version : 1 Tx_start : 65544237 Tx_end : 65557311 Exon_count : 3 Overlapped_tx_length : 13074 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65544237 Intersect_end : 65557311 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369757Gene_name : LOC105369757; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_944929 Tx_version : 3 Tx_start : 48982356 Tx_end : 48987074 Exon_count : 3 Overlapped_tx_length : 4718 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48982356 Intersect_end : 48987074 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902956Gene_name : LOC124902956; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_007063353 Tx_version : 1 Tx_start : 66901119 Tx_end : 66923243 Exon_count : 2 Overlapped_tx_length : 22124 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66901119 Intersect_end : 66923243 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:66665062-66989826; chr12:66866426-67037930 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903038Gene_name : LOC124903038; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063499 Tx_version : 1 Tx_start : 121996472 Tx_end : 122005700 Exon_count : 2 Overlapped_tx_length : 9228 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121996472 Intersect_end : 122005700 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369795Gene_name : LOC105369795; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : XR_945016 Tx_version : 3 Tx_start : 62840373 Tx_end : 62901026 Exon_count : 3 Overlapped_tx_length : 60653 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62840373 Intersect_end : 62901026 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900323Gene_name : LOC124900323; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_007063626 Tx_version : 1 Tx_start : 115852647 Tx_end : 115852718 Exon_count : 1 Overlapped_tx_length : 71 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 115852647 Intersect_end : 115852718 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984468Gene_name : LOC107984468; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : XR_007063330 Tx_version : 1 Tx_start : 56190691 Tx_end : 56195017 Exon_count : 2 Overlapped_tx_length : 4326 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56190691 Intersect_end : 56195017 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903114Gene_name : LOC124903114; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_007063649 Tx_version : 1 Tx_start : 120048429 Tx_end : 120048528 Exon_count : 1 Overlapped_tx_length : 99 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120048429 Intersect_end : 120048528 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:120042422-120050200 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369911Gene_name : LOC105369911; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_135017 Tx_version : 1 Tx_start : 93894964 Tx_end : 93943606 Exon_count : 3 Overlapped_tx_length : 48642 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93894964 Intersect_end : 93943606 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902999Gene_name : LOC124902999; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007063428 Tx_version : 1 Tx_start : 102864420 Tx_end : 102904995 Exon_count : 3 Overlapped_tx_length : 40575 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 102864420 Intersect_end : 102904995 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:102865713-102871067; 12:102865714-10287106[...]P_loss_coord : 12:102865713-102871067; 12:102865714-102871066; 12:102866370-102868041; 12:102866371-102868040; 12:102866577-102866683; 12:102866587-102866673; 12:102866595-102866663; 12:102894726-102894931; 12:102894736-102894918 P_loss_source : CLN:1053684; CLN:1053685; CLN:108417; dbVar:nssv15130213; dbVar:nssv15222951; dbVar:nssv16212451; dbVar:nssv16213855; dbVar:nssv17059592; dbVar:nssv17059610 P_loss_phen : Phenylketonuria; |Phenylketonuria P_loss_hpo : . |
99P_snvindel_nb : 99 P_snvindel_phen : 6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency; Hyperphenylalaninemia; Inborn_genetic_diseases; PAH-related_condition; Phenylketonuria; See_cases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370030Gene_name : LOC105370030; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063494 Tx_version : 1 Tx_start : 121111954 Tx_end : 121119706 Exon_count : 3 Overlapped_tx_length : 7752 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 121111954 Intersect_end : 121119706 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; dbVar; esv3630934B_loss_source : 1000g; dbVar; esv3630934 B_loss_coord : chr12:121063111-121157572; 12:121063112-121157572; 12:121063112-121157572 B_loss_AFmax : 0.1646 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902977Gene_name : LOC124902977; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : XR_007063393 Tx_version : 1 Tx_start : 88054500 Tx_end : 88082376 Exon_count : 3 Overlapped_tx_length : 27876 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88054500 Intersect_end : 88082376 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:88058839-88060030; 12:88071275-88071946; 1[...]P_loss_coord : 12:88058839-88060030; 12:88071275-88071946; 12:88077213-88079239 P_loss_source : dbVar:nssv17968931; dbVar:nssv17968972; dbVar:nssv18787737 P_loss_phen : . P_loss_hpo : . |
113P_snvindel_nb : 113 P_snvindel_phen : Abnormality_of_the_kidney; Abnormality_of_the_nervous_system; Bardet-Biedl_syndrome_14; CEP290-Related_Disorders; CEP290-related_ciliopathy; CEP290-related_condition; COG7_congenital_disorder_of_glycosylation; Cerebellar_cyst; Cerebellar_vermis_hypoplasia; Congenital_blindness; Encephalocele; Familial_aplasia_of_the_vermis; Hyperechogenic_kidneys; Inborn_genetic_diseases; Intellectual_disability; Joubert_syndrome_1; Joubert_syndrome_5; Kidney_disorder; Leber_congenital_amaurosis; Leber_congenital_amaurosis_10; Meckel-Gruber_syndrome; Meckel_syndrome,_type_4; Meckel_syndrome,_type_6; Nephronophthisis; Polycystic_kidney_disease; Retinal_dystrophy; Retinitis_pigmentosa; See_cases; Senior-Loken_syndrome_6; Severe_hydrocephalus |
dbVarB_loss_source : dbVar B_loss_coord : chr12:88027812-88118905 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902941Gene_name : LOC124902941; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : XR_007063325 Tx_version : 1 Tx_start : 55913825 Tx_end : 55923771 Exon_count : 2 Overlapped_tx_length : 9946 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55913825 Intersect_end : 55923771 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370019Gene_name : LOC105370019; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_945423 Tx_version : 3 Tx_start : 118871453 Tx_end : 118920284 Exon_count : 5 Overlapped_tx_length : 48831 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118871453 Intersect_end : 118920284 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101927786Gene_name : LOC101927786; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_242978 Tx_version : 5 Tx_start : 130332192 Tx_end : 130336240 Exon_count : 3 Overlapped_tx_length : 4048 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130332192 Intersect_end : 130336240 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:130321603-130337847 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902974Gene_name : LOC124902974; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063387 Tx_version : 1 Tx_start : 79823780 Tx_end : 79825198 Exon_count : 2 Overlapped_tx_length : 1418 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 79823780 Intersect_end : 79825198 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984469Gene_name : LOC107984469; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063272 Tx_version : 1 Tx_start : 38138489 Tx_end : 38142651 Exon_count : 2 Overlapped_tx_length : 4162 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 38138489 Intersect_end : 38142651 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370026Gene_name : LOC105370026; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_945438 Tx_version : 3 Tx_start : 119210684 Tx_end : 119221131 Exon_count : 3 Overlapped_tx_length : 10447 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119210684 Intersect_end : 119221131 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100996671Gene_name : LOC100996671; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_110034 Tx_version : 2 Tx_start : 126652945 Tx_end : 126690318 Exon_count : 3 Overlapped_tx_length : 37373 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126652945 Intersect_end : 126690318 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902973Gene_name : LOC124902973; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063386 Tx_version : 1 Tx_start : 79146133 Tx_end : 79172968 Exon_count : 2 Overlapped_tx_length : 26835 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 79146133 Intersect_end : 79172968 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369927Gene_name : LOC105369927; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_945249 Tx_version : 3 Tx_start : 97194032 Tx_end : 97229910 Exon_count : 3 Overlapped_tx_length : 35878 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97194032 Intersect_end : 97229910 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370067Gene_name : LOC105370067; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_945528 Tx_version : 4 Tx_start : 127484527 Tx_end : 127509066 Exon_count : 4 Overlapped_tx_length : 24539 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127484527 Intersect_end : 127509066 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:127332858-127525302 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902937Gene_name : LOC124902937; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_007063316 Tx_version : 1 Tx_start : 53535365 Tx_end : 53586077 Exon_count : 3 Overlapped_tx_length : 50712 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53535365 Intersect_end : 53586077 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903085Gene_name : LOC124903085; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063609 Tx_version : 1 Tx_start : 129850913 Tx_end : 129860652 Exon_count : 3 Overlapped_tx_length : 9739 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129850913 Intersect_end : 129860652 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984440Gene_name : LOC107984440; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_007063482 Tx_version : 1 Tx_start : 119181166 Tx_end : 119184095 Exon_count : 3 Overlapped_tx_length : 2929 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119181166 Intersect_end : 119184095 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101927484Gene_name : LOC101927484; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : XR_245987 Tx_version : 4 Tx_start : 55023487 Tx_end : 55035756 Exon_count : 5 Overlapped_tx_length : 12269 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55023487 Intersect_end : 55035756 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903046Gene_name : LOC124903046; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063510 Tx_version : 1 Tx_start : 124786762 Tx_end : 124791284 Exon_count : 2 Overlapped_tx_length : 4522 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124786762 Intersect_end : 124791284 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369726Gene_name : LOC105369726; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.1 Location2 : UTR Tx : XR_931504 Tx_version : 3 Tx_start : 33685956 Tx_end : 33691866 Exon_count : 3 Overlapped_tx_length : 5910 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 33685956 Intersect_end : 33691866 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; esv2761043B_loss_source : dbVar; esv2761043 B_loss_coord : 12:33141565-34701563; chr12:33417792-33710501; chr12:33419959-33704145 B_loss_AFmax : 0.0400 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903033Gene_name : LOC124903033; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_007063485 Tx_version : 1 Tx_start : 119674399 Tx_end : 119685486 Exon_count : 2 Overlapped_tx_length : 11087 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119674399 Intersect_end : 119685486 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369946Gene_name : LOC105369946; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_188417 Tx_version : 1 Tx_start : 103667205 Tx_end : 103670410 Exon_count : 3 Overlapped_tx_length : 3205 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103667205 Intersect_end : 103670410 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107987176Gene_name : LOC107987176; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_001749176 Tx_version : 1 Tx_start : 128262946 Tx_end : 128267032 Exon_count : 2 Overlapped_tx_length : 4086 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128262946 Intersect_end : 128267032 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902946Gene_name : LOC124902946; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : XR_007063334 Tx_version : 1 Tx_start : 57110721 Tx_end : 57112879 Exon_count : 2 Overlapped_tx_length : 2158 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57110721 Intersect_end : 57112879 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369957Gene_name : LOC105369957; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_945302 Tx_version : 3 Tx_start : 105372113 Tx_end : 105412882 Exon_count : 3 Overlapped_tx_length : 40769 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105372113 Intersect_end : 105412882 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984435Gene_name : LOC107984435; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_001749305 Tx_version : 2 Tx_start : 105741776 Tx_end : 105766898 Exon_count : 4 Overlapped_tx_length : 25122 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105741776 Intersect_end : 105766898 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101929967Gene_name : LOC101929967; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_945096 Tx_version : 2 Tx_start : 74612393 Tx_end : 74621059 Exon_count : 3 Overlapped_tx_length : 8666 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 74612393 Intersect_end : 74621059 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369851Gene_name : LOC105369851; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_945115 Tx_version : 3 Tx_start : 76636118 Tx_end : 76664968 Exon_count : 2 Overlapped_tx_length : 28850 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76636118 Intersect_end : 76664968 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:76634939-76701586 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369756Gene_name : LOC105369756; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_944926 Tx_version : 1 Tx_start : 48987780 Tx_end : 48988743 Exon_count : 3 Overlapped_tx_length : 963 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48987780 Intersect_end : 48988743 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903043Gene_name : LOC124903043; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063505 Tx_version : 1 Tx_start : 123922597 Tx_end : 123925017 Exon_count : 2 Overlapped_tx_length : 2420 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123922597 Intersect_end : 123925017 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369958Gene_name : LOC105369958; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_001749300 Tx_version : 2 Tx_start : 105489701 Tx_end : 105550035 Exon_count : 7 Overlapped_tx_length : 60334 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105489701 Intersect_end : 105550035 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902927Gene_name : LOC124902927; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_007063293 Tx_version : 1 Tx_start : 48019770 Tx_end : 48022175 Exon_count : 2 Overlapped_tx_length : 2405 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48019770 Intersect_end : 48022175 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:48018732-48026046 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902985Gene_name : LOC124902985; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063408 Tx_version : 1 Tx_start : 93533172 Tx_end : 93537607 Exon_count : 2 Overlapped_tx_length : 4435 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93533172 Intersect_end : 93537607 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984525Gene_name : LOC107984525; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_002957415 Tx_version : 2 Tx_start : 53769714 Tx_end : 53898384 Exon_count : 4 Overlapped_tx_length : 128670 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53769714 Intersect_end : 53898384 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370011Gene_name : LOC105370011; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_945403 Tx_version : 3 Tx_start : 117832765 Tx_end : 117843778 Exon_count : 3 Overlapped_tx_length : 11013 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 117832765 Intersect_end : 117843778 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:117826187-117844038 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369923Gene_name : LOC105369923; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_945238 Tx_version : 2 Tx_start : 96096042 Tx_end : 96108616 Exon_count : 3 Overlapped_tx_length : 12574 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 96096042 Intersect_end : 96108616 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369880Gene_name : LOC105369880; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : XR_945160 Tx_version : 2 Tx_start : 87429151 Tx_end : 87440601 Exon_count : 3 Overlapped_tx_length : 11450 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 87429151 Intersect_end : 87440601 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100240734Gene_name : LOC100240734; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : NR_026657 Tx_version : 1 Tx_start : 54102208 Tx_end : 54102699 Exon_count : 1 Overlapped_tx_length : 491 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54102208 Intersect_end : 54102699 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903055Gene_name : LOC124903055; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063528 Tx_version : 1 Tx_start : 131310025 Tx_end : 131312811 Exon_count : 2 Overlapped_tx_length : 2786 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131310025 Intersect_end : 131312811 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:[...]B_loss_source : 1000g; CMRI:31_pbsv.DEL.2203_duplicate3; DDD:40088; dbVar; dgv29e203 B_loss_coord : chr12:131245620-131344309; 12:131245621-131344309; 12:131245689-131344294; chr12:131245692-131344294; 12:131245804-131340783; 12:131247400-131341210 B_loss_AFmax : 0.0120 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902986Gene_name : LOC124902986; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063409 Tx_version : 1 Tx_start : 94101612 Tx_end : 94126470 Exon_count : 2 Overlapped_tx_length : 24858 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94101612 Intersect_end : 94126470 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903074Gene_name : LOC124903074; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_007063578 Tx_version : 1 Tx_start : 90809206 Tx_end : 90810680 Exon_count : 2 Overlapped_tx_length : 1474 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 90809206 Intersect_end : 90810680 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272; chr12:90671856-90815959; chr12:90806642-90813349 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903044Gene_name : LOC124903044; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063508 Tx_version : 1 Tx_start : 124423311 Tx_end : 124424587 Exon_count : 2 Overlapped_tx_length : 1276 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124423311 Intersect_end : 124424587 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100505978Gene_name : LOC100505978; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_038912 Tx_version : 1 Tx_start : 106680757 Tx_end : 106684700 Exon_count : 4 Overlapped_tx_length : 3943 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106680757 Intersect_end : 106684700 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902943Gene_name : LOC124902943; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : XR_007063328 Tx_version : 1 Tx_start : 56143107 Tx_end : 56153873 Exon_count : 2 Overlapped_tx_length : 10766 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56143107 Intersect_end : 56153873 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902930Gene_name : LOC124902930; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_007063302 Tx_version : 1 Tx_start : 49930823 Tx_end : 49945707 Exon_count : 2 Overlapped_tx_length : 14884 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49930823 Intersect_end : 49945707 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984510Gene_name : LOC107984510; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_001749148 Tx_version : 3 Tx_start : 52048604 Tx_end : 52051154 Exon_count : 2 Overlapped_tx_length : 2550 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52048604 Intersect_end : 52051154 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903101Gene_name : LOC124903101; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.2 Location2 : UTR Tx : XR_007063638 Tx_version : 1 Tx_start : 64355761 Tx_end : 64355865 Exon_count : 1 Overlapped_tx_length : 104 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 64355761 Intersect_end : 64355865 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:64352437-64356056 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903013Gene_name : LOC124903013; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063456 Tx_version : 1 Tx_start : 109973436 Tx_end : 109982526 Exon_count : 3 Overlapped_tx_length : 9090 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109973436 Intersect_end : 109982526 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902923Gene_name : LOC124902923; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_007063284 Tx_version : 1 Tx_start : 46430231 Tx_end : 46494470 Exon_count : 2 Overlapped_tx_length : 64239 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 46430231 Intersect_end : 46494470 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902936Gene_name : LOC124902936; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_007063315 Tx_version : 1 Tx_start : 53106631 Tx_end : 53115531 Exon_count : 3 Overlapped_tx_length : 8900 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53106631 Intersect_end : 53115531 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517066B_loss_source : nsv517066 B_loss_coord : 12:53006395-53340722 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369974Gene_name : LOC105369974; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_945332 Tx_version : 3 Tx_start : 109118653 Tx_end : 109131842 Exon_count : 3 Overlapped_tx_length : 13189 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109118653 Intersect_end : 109131842 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984515Gene_name : LOC107984515; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : XR_001749161 Tx_version : 2 Tx_start : 54984850 Tx_end : 55005880 Exon_count : 2 Overlapped_tx_length : 21030 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 54984850 Intersect_end : 55005880 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984480Gene_name : LOC107984480; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_001749179 Tx_version : 1 Tx_start : 130316209 Tx_end : 130317397 Exon_count : 3 Overlapped_tx_length : 1188 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130316209 Intersect_end : 130317397 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903091Gene_name : LOC124903091; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_007063617 Tx_version : 1 Tx_start : 31366263 Tx_end : 31366366 Exon_count : 1 Overlapped_tx_length : 103 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31366263 Intersect_end : 31366366 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:38281B_loss_source : DDD:38281 B_loss_coord : 12:31364310-31366860 B_loss_AFmax : 0.0312 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369781Gene_name : LOC105369781; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : NR_135023 Tx_version : 1 Tx_start : 56010091 Tx_end : 56025091 Exon_count : 3 Overlapped_tx_length : 15000 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56010091 Intersect_end : 56025091 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902957Gene_name : LOC124902957; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_007063354 Tx_version : 1 Tx_start : 67328520 Tx_end : 67352680 Exon_count : 2 Overlapped_tx_length : 24160 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67328520 Intersect_end : 67352680 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:67262967-67357107 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370069Gene_name : LOC105370069; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_945530 Tx_version : 3 Tx_start : 127719092 Tx_end : 127721711 Exon_count : 3 Overlapped_tx_length : 2619 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127719092 Intersect_end : 127721711 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC643339Gene_name : LOC643339; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : NR_040096 Tx_version : 1 Tx_start : 93003757 Tx_end : 93377736 Exon_count : 5 Overlapped_tx_length : 373979 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93003757 Intersect_end : 93377736 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101593348Gene_name : LOC101593348; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_103497 Tx_version : 1 Tx_start : 122226441 Tx_end : 122228792 Exon_count : 1 Overlapped_tx_length : 2351 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122226441 Intersect_end : 122228792 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370020Gene_name : LOC105370020; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_945428 Tx_version : 4 Tx_start : 118945770 Tx_end : 118956188 Exon_count : 3 Overlapped_tx_length : 10418 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118945770 Intersect_end : 118956188 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900328Gene_name : LOC124900328; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_007063631 Tx_version : 1 Tx_start : 118888433 Tx_end : 118888564 Exon_count : 1 Overlapped_tx_length : 131 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118888433 Intersect_end : 118888564 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369913Gene_name : LOC105369913; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_945223 Tx_version : 3 Tx_start : 94038508 Tx_end : 94048038 Exon_count : 4 Overlapped_tx_length : 9530 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94038508 Intersect_end : 94048038 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903035Gene_name : LOC124903035; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063488 Tx_version : 1 Tx_start : 120701810 Tx_end : 120706500 Exon_count : 2 Overlapped_tx_length : 4690 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120701810 Intersect_end : 120706500 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903073Gene_name : LOC124903073; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_007063576 Tx_version : 1 Tx_start : 85705964 Tx_end : 85712868 Exon_count : 2 Overlapped_tx_length : 6904 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 85705964 Intersect_end : 85712868 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:85691426-85715757 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369724Gene_name : LOC105369724; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_001749077 Tx_version : 2 Tx_start : 31749132 Tx_end : 31757101 Exon_count : 3 Overlapped_tx_length : 7969 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31749132 Intersect_end : 31757101 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:31747329-31761702; chr12:31747455-31761796; chr12:31747566-31762066 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903054Gene_name : LOC124903054; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063527 Tx_version : 1 Tx_start : 130970175 Tx_end : 130971458 Exon_count : 2 Overlapped_tx_length : 1283 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130970175 Intersect_end : 130971458 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903102Gene_name : LOC124903102; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063639 Tx_version : 1 Tx_start : 93265628 Tx_end : 93265732 Exon_count : 1 Overlapped_tx_length : 104 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93265628 Intersect_end : 93265732 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272; chr12:93254533-93266545; chr12:93265068-93270032; chr12:93265224-93270224 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369949Gene_name : LOC105369949; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063432 Tx_version : 1 Tx_start : 104377118 Tx_end : 104398599 Exon_count : 4 Overlapped_tx_length : 21481 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104377118 Intersect_end : 104398599 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903082Gene_name : LOC124903082; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_007063592 Tx_version : 1 Tx_start : 115299587 Tx_end : 115355038 Exon_count : 11 Overlapped_tx_length : 55451 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 115299587 Intersect_end : 115355038 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902975Gene_name : LOC124902975; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_007063389 Tx_version : 1 Tx_start : 80497231 Tx_end : 80513483 Exon_count : 3 Overlapped_tx_length : 16252 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 80497231 Intersect_end : 80513483 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369775Gene_name : LOC105369775; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_944977 Tx_version : 2 Tx_start : 53953384 Tx_end : 53956427 Exon_count : 3 Overlapped_tx_length : 3043 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53953384 Intersect_end : 53956427 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902938Gene_name : LOC124902938; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_007063318 Tx_version : 1 Tx_start : 53641554 Tx_end : 53642938 Exon_count : 2 Overlapped_tx_length : 1384 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53641554 Intersect_end : 53642938 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
XLOC_009911Gene_name : XLOC_009911; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : NR_131215 Tx_version : 1 Tx_start : 120904694 Tx_end : 120908074 Exon_count : 2 Overlapped_tx_length : 3380 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120904694 Intersect_end : 120908074 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:120793274-120914076 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903099Gene_name : LOC124903099; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063627 Tx_version : 1 Tx_start : 110496351 Tx_end : 110496421 Exon_count : 1 Overlapped_tx_length : 70 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110496351 Intersect_end : 110496421 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369933Gene_name : LOC105369933; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_945258 Tx_version : 3 Tx_start : 98337658 Tx_end : 98350717 Exon_count : 4 Overlapped_tx_length : 13059 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98337658 Intersect_end : 98350717 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370071Gene_name : LOC105370071; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_945534 Tx_version : 2 Tx_start : 128072253 Tx_end : 128074306 Exon_count : 3 Overlapped_tx_length : 2053 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128072253 Intersect_end : 128074306 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902920Gene_name : LOC124902920; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063279 Tx_version : 1 Tx_start : 42238444 Tx_end : 42239278 Exon_count : 2 Overlapped_tx_length : 834 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 42238444 Intersect_end : 42239278 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903008Gene_name : LOC124903008; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063443 Tx_version : 1 Tx_start : 106248271 Tx_end : 106252787 Exon_count : 2 Overlapped_tx_length : 4516 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 106248271 Intersect_end : 106252787 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903034Gene_name : LOC124903034; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_007063486 Tx_version : 1 Tx_start : 120220090 Tx_end : 120225421 Exon_count : 2 Overlapped_tx_length : 5331 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 120220090 Intersect_end : 120225421 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369783Gene_name : LOC105369783; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_188077 Tx_version : 1 Tx_start : 57837090 Tx_end : 57843761 Exon_count : 2 Overlapped_tx_length : 6671 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57837090 Intersect_end : 57843761 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369809Gene_name : LOC105369809; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_945036 Tx_version : 3 Tx_start : 65474459 Tx_end : 65488247 Exon_count : 2 Overlapped_tx_length : 13788 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65474459 Intersect_end : 65488247 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370061Gene_name : LOC105370061; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_007063516 Tx_version : 1 Tx_start : 126874803 Tx_end : 126888718 Exon_count : 4 Overlapped_tx_length : 13915 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126874803 Intersect_end : 126888718 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126839969-126935623 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902961Gene_name : LOC124902961; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063363 Tx_version : 1 Tx_start : 71110215 Tx_end : 71118585 Exon_count : 2 Overlapped_tx_length : 8370 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71110215 Intersect_end : 71118585 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:71094870-71124947; chr12:71103220-71123220 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984472Gene_name : LOC107984472; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_001749170 Tx_version : 1 Tx_start : 118818208 Tx_end : 118834639 Exon_count : 3 Overlapped_tx_length : 16431 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118818208 Intersect_end : 118834639 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:118796546-118852767; chr12:118796655-118852819 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902955Gene_name : LOC124902955; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_007063351 Tx_version : 1 Tx_start : 65939925 Tx_end : 65948707 Exon_count : 2 Overlapped_tx_length : 8782 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 65939925 Intersect_end : 65948707 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_b90f74dfB_loss_source : gnomAD-SV_v3_DEL_chr12_b90f74df B_loss_coord : chr12:65256321-66057593 B_loss_AFmax : 0.9999 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903105Gene_name : LOC124903105; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007063642 Tx_version : 1 Tx_start : 101789814 Tx_end : 101789915 Exon_count : 1 Overlapped_tx_length : 101 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101789814 Intersect_end : 101789915 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369995Gene_name : LOC105369995; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : NR_188422 Tx_version : 1 Tx_start : 114077117 Tx_end : 114113490 Exon_count : 5 Overlapped_tx_length : 36373 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114077117 Intersect_end : 114113490 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : NR_026806 Tx_version : 1 Tx_start : 31324315 Tx_end : 31325945 Exon_count : 1 Overlapped_tx_length : 1630 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31324315 Intersect_end : 31325945 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902997Gene_name : LOC124902997; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007063424 Tx_version : 1 Tx_start : 101743989 Tx_end : 101744967 Exon_count : 2 Overlapped_tx_length : 978 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101743989 Intersect_end : 101744967 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903090Gene_name : LOC124903090; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : 5'UTR-3'UTR Tx : XM_047429977 Tx_version : 1 Tx_start : 131428499 Tx_end : 131440387 Exon_count : 2 Overlapped_tx_length : 11888 Overlapped_CDS_length : 1554 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131428499 Intersect_end : 131440387 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:131411961-131467758; chr12:131415455-131474455 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984548Gene_name : LOC107984548; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_001749284 Tx_version : 2 Tx_start : 101955435 Tx_end : 101964237 Exon_count : 3 Overlapped_tx_length : 8802 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101955435 Intersect_end : 101964237 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369863Gene_name : LOC105369863; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063384 Tx_version : 1 Tx_start : 78905023 Tx_end : 79102879 Exon_count : 5 Overlapped_tx_length : 197856 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 78905023 Intersect_end : 79102879 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369819Gene_name : LOC105369819; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_945057 Tx_version : 3 Tx_start : 68332630 Tx_end : 68337188 Exon_count : 3 Overlapped_tx_length : 4558 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68332630 Intersect_end : 68337188 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370073Gene_name : LOC105370073; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_945538 Tx_version : 3 Tx_start : 129021692 Tx_end : 129029026 Exon_count : 3 Overlapped_tx_length : 7334 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129021692 Intersect_end : 129029026 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:129018473-129030314; chr12:129018532-129030373 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC128125814Gene_name : LOC128125814; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : 5'UTR-3'UTR Tx : NM_001414991 Tx_version : 1 Tx_start : 57517711 Tx_end : 57520480 Exon_count : 2 Overlapped_tx_length : 2769 Overlapped_CDS_length : 105 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57517711 Intersect_end : 57520480 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369787Gene_name : LOC105369787; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : 5'UTR-3'UTR Tx : XM_047429956 Tx_version : 1 Tx_start : 58328380 Tx_end : 58337040 Exon_count : 3 Overlapped_tx_length : 8660 Overlapped_CDS_length : 2097 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58328380 Intersect_end : 58337040 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370022Gene_name : LOC105370022; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_945431 Tx_version : 3 Tx_start : 119031037 Tx_end : 119052187 Exon_count : 3 Overlapped_tx_length : 21150 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119031037 Intersect_end : 119052187 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900330Gene_name : LOC124900330; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.3 Location2 : UTR Tx : XR_007063633 Tx_version : 1 Tx_start : 56861374 Tx_end : 56861508 Exon_count : 1 Overlapped_tx_length : 134 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56861374 Intersect_end : 56861508 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903002Gene_name : LOC124903002; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063431 Tx_version : 1 Tx_start : 104262311 Tx_end : 104280843 Exon_count : 2 Overlapped_tx_length : 18532 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104262311 Intersect_end : 104280843 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902969Gene_name : LOC124902969; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063378 Tx_version : 1 Tx_start : 75966251 Tx_end : 75967062 Exon_count : 2 Overlapped_tx_length : 811 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75966251 Intersect_end : 75967062 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370076Gene_name : LOC105370076; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_945543 Tx_version : 3 Tx_start : 129957582 Tx_end : 129975790 Exon_count : 4 Overlapped_tx_length : 18208 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129957582 Intersect_end : 129975790 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370068Gene_name : LOC105370068; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : NR_134995 Tx_version : 1 Tx_start : 127648895 Tx_end : 127655588 Exon_count : 4 Overlapped_tx_length : 6693 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127648895 Intersect_end : 127655588 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903056Gene_name : LOC124903056; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063534 Tx_version : 1 Tx_start : 131534810 Tx_end : 131558230 Exon_count : 2 Overlapped_tx_length : 23420 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131534810 Intersect_end : 131558230 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:131476654-131611967 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369843Gene_name : LOC105369843; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_945100 Tx_version : 4 Tx_start : 75016187 Tx_end : 75025839 Exon_count : 4 Overlapped_tx_length : 9652 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75016187 Intersect_end : 75025839 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:75014415-75026807 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370086Gene_name : LOC105370086; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_945568 Tx_version : 3 Tx_start : 131659472 Tx_end : 131661648 Exon_count : 3 Overlapped_tx_length : 2176 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131659472 Intersect_end : 131661648 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101927608Gene_name : LOC101927608; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_187681 Tx_version : 1 Tx_start : 57894238 Tx_end : 57896832 Exon_count : 2 Overlapped_tx_length : 2594 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 57894238 Intersect_end : 57896832 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369736Gene_name : LOC105369736; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_944868 Tx_version : 3 Tx_start : 40354751 Tx_end : 40443896 Exon_count : 6 Overlapped_tx_length : 89145 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40354751 Intersect_end : 40443896 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984498Gene_name : LOC107984498; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_001749090 Tx_version : 2 Tx_start : 41555669 Tx_end : 41566306 Exon_count : 3 Overlapped_tx_length : 10637 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41555669 Intersect_end : 41566306 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903116Gene_name : LOC124903116; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063650 Tx_version : 1 Tx_start : 93350615 Tx_end : 93350716 Exon_count : 1 Overlapped_tx_length : 101 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93350615 Intersect_end : 93350716 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369853Gene_name : LOC105369853; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_945118 Tx_version : 2 Tx_start : 77122406 Tx_end : 77152104 Exon_count : 5 Overlapped_tx_length : 29698 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 77122406 Intersect_end : 77152104 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903053Gene_name : LOC124903053; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063526 Tx_version : 1 Tx_start : 130852951 Tx_end : 130856601 Exon_count : 2 Overlapped_tx_length : 3650 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130852951 Intersect_end : 130856601 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903024Gene_name : LOC124903024; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : XR_007063467 Tx_version : 1 Tx_start : 112489183 Tx_end : 112491424 Exon_count : 2 Overlapped_tx_length : 2241 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112489183 Intersect_end : 112491424 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105378250Gene_name : LOC105378250; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_944976 Tx_version : 3 Tx_start : 53757299 Tx_end : 53762272 Exon_count : 2 Overlapped_tx_length : 4973 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 53757299 Intersect_end : 53762272 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369761Gene_name : LOC105369761; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_007063298 Tx_version : 1 Tx_start : 49550280 Tx_end : 49553199 Exon_count : 3 Overlapped_tx_length : 2919 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49550280 Intersect_end : 49553199 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370018Gene_name : LOC105370018; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_945422 Tx_version : 3 Tx_start : 118837488 Tx_end : 118868033 Exon_count : 8 Overlapped_tx_length : 30545 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118837488 Intersect_end : 118868033 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101927019Gene_name : LOC101927019; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063276 Tx_version : 1 Tx_start : 39315931 Tx_end : 39328147 Exon_count : 3 Overlapped_tx_length : 12216 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39315931 Intersect_end : 39328147 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39263851-39363195 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903042Gene_name : LOC124903042; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063503 Tx_version : 1 Tx_start : 123575891 Tx_end : 123578867 Exon_count : 2 Overlapped_tx_length : 2976 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123575891 Intersect_end : 123578867 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370002Gene_name : LOC105370002; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : NR_188486 Tx_version : 1 Tx_start : 115581543 Tx_end : 115641136 Exon_count : 6 Overlapped_tx_length : 59593 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 115581543 Intersect_end : 115641136 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902967Gene_name : LOC124902967; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063370 Tx_version : 1 Tx_start : 74401972 Tx_end : 74402532 Exon_count : 2 Overlapped_tx_length : 560 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 74401972 Intersect_end : 74402532 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:74313321-74501443 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370024Gene_name : LOC105370024; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_134996 Tx_version : 1 Tx_start : 119174064 Tx_end : 119176484 Exon_count : 2 Overlapped_tx_length : 2420 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119174064 Intersect_end : 119176484 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369879Gene_name : LOC105369879; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : NR_135020 Tx_version : 1 Tx_start : 87330738 Tx_end : 87332321 Exon_count : 2 Overlapped_tx_length : 1583 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 87330738 Intersect_end : 87332321 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903017Gene_name : LOC124903017; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063460 Tx_version : 1 Tx_start : 110662670 Tx_end : 110672923 Exon_count : 2 Overlapped_tx_length : 10253 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110662670 Intersect_end : 110672923 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903088Gene_name : LOC124903088; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063615 Tx_version : 1 Tx_start : 130133381 Tx_end : 130140832 Exon_count : 2 Overlapped_tx_length : 7451 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130133381 Intersect_end : 130140832 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902971Gene_name : LOC124902971; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063380 Tx_version : 1 Tx_start : 76878358 Tx_end : 76881465 Exon_count : 2 Overlapped_tx_length : 3107 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76878358 Intersect_end : 76881465 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903087Gene_name : LOC124903087; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063614 Tx_version : 1 Tx_start : 130018138 Tx_end : 130018995 Exon_count : 2 Overlapped_tx_length : 857 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130018138 Intersect_end : 130018995 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369960Gene_name : LOC105369960; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_945310 Tx_version : 3 Tx_start : 105783922 Tx_end : 105787444 Exon_count : 3 Overlapped_tx_length : 3522 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105783922 Intersect_end : 105787444 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370021Gene_name : LOC105370021; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_945429 Tx_version : 3 Tx_start : 119110876 Tx_end : 119124970 Exon_count : 3 Overlapped_tx_length : 14094 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119110876 Intersect_end : 119124970 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369818Gene_name : LOC105369818; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_001749193 Tx_version : 2 Tx_start : 68182904 Tx_end : 68201353 Exon_count : 3 Overlapped_tx_length : 18449 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68182904 Intersect_end : 68201353 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369937Gene_name : LOC105369937; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_188371 Tx_version : 1 Tx_start : 101646719 Tx_end : 101650871 Exon_count : 2 Overlapped_tx_length : 4152 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101646719 Intersect_end : 101650871 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902979Gene_name : LOC124902979; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : XR_007063398 Tx_version : 1 Tx_start : 88559316 Tx_end : 88565392 Exon_count : 2 Overlapped_tx_length : 6076 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88559316 Intersect_end : 88565392 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369812Gene_name : LOC105369812; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_001749186 Tx_version : 2 Tx_start : 67394383 Tx_end : 67480694 Exon_count : 5 Overlapped_tx_length : 86311 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67394383 Intersect_end : 67480694 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101928912Gene_name : LOC101928912; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_246024 Tx_version : 4 Tx_start : 97230209 Tx_end : 97257412 Exon_count : 3 Overlapped_tx_length : 27203 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97230209 Intersect_end : 97257412 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903103Gene_name : LOC124903103; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_007063640 Tx_version : 1 Tx_start : 62651174 Tx_end : 62651278 Exon_count : 1 Overlapped_tx_length : 104 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 62651174 Intersect_end : 62651278 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903023Gene_name : LOC124903023; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.13 Location2 : UTR Tx : XR_007063466 Tx_version : 1 Tx_start : 112457749 Tx_end : 112470245 Exon_count : 3 Overlapped_tx_length : 12496 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 112457749 Intersect_end : 112470245 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369877Gene_name : LOC105369877; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_001749240 Tx_version : 2 Tx_start : 86262012 Tx_end : 86272264 Exon_count : 3 Overlapped_tx_length : 10252 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 86262012 Intersect_end : 86272264 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370027Gene_name : LOC105370027; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : NR_188490 Tx_version : 1 Tx_start : 119387986 Tx_end : 119668127 Exon_count : 4 Overlapped_tx_length : 280141 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 119387986 Intersect_end : 119668127 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369752Gene_name : LOC105369752; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_944910 Tx_version : 2 Tx_start : 47980646 Tx_end : 47982875 Exon_count : 4 Overlapped_tx_length : 2229 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47980646 Intersect_end : 47982875 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
37P_snvindel_nb : 37 P_snvindel_phen : Achondrogenesis_type_II; Connective_tissue_disorder; Inborn_genetic_diseases; Stickler_syndrome_type_1; Type_2_collagenopathy |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370003Gene_name : LOC105370003; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_945389 Tx_version : 3 Tx_start : 115373510 Tx_end : 115763065 Exon_count : 4 Overlapped_tx_length : 389555 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 115373510 Intersect_end : 115763065 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900333Gene_name : LOC124900333; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063635 Tx_version : 1 Tx_start : 108778143 Tx_end : 108778271 Exon_count : 1 Overlapped_tx_length : 128 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108778143 Intersect_end : 108778271 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902942Gene_name : LOC124902942; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : 5'UTR-3'UTR Tx : XM_047429954 Tx_version : 1 Tx_start : 56151826 Tx_end : 56153897 Exon_count : 3 Overlapped_tx_length : 2071 Overlapped_CDS_length : 315 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56151826 Intersect_end : 56153897 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902912Gene_name : LOC124902912; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_007063265 Tx_version : 1 Tx_start : 31117259 Tx_end : 31124627 Exon_count : 5 Overlapped_tx_length : 7368 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31117259 Intersect_end : 31124627 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101928937Gene_name : LOC101928937; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : NR_110095 Tx_version : 1 Tx_start : 99093358 Tx_end : 99105011 Exon_count : 5 Overlapped_tx_length : 11653 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 99093358 Intersect_end : 99105011 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107987178Gene_name : LOC107987178; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_001749203 Tx_version : 3 Tx_start : 74306365 Tx_end : 74341335 Exon_count : 3 Overlapped_tx_length : 34970 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 74306365 Intersect_end : 74341335 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100507250Gene_name : LOC100507250; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : NR_038930 Tx_version : 1 Tx_start : 68674370 Tx_end : 68686859 Exon_count : 3 Overlapped_tx_length : 12489 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 68674370 Intersect_end : 68686859 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903072Gene_name : LOC124903072; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_007063567 Tx_version : 1 Tx_start : 67435143 Tx_end : 67435911 Exon_count : 2 Overlapped_tx_length : 768 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67435143 Intersect_end : 67435911 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903096Gene_name : LOC124903096; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007063619 Tx_version : 1 Tx_start : 103114033 Tx_end : 103114098 Exon_count : 1 Overlapped_tx_length : 65 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103114033 Intersect_end : 103114098 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369890Gene_name : LOC105369890; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_001749246 Tx_version : 2 Tx_start : 89920141 Tx_end : 90112289 Exon_count : 13 Overlapped_tx_length : 192148 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89920141 Intersect_end : 90112289 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100128276Gene_name : LOC100128276; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_148996 Tx_version : 1 Tx_start : 128849170 Tx_end : 128853095 Exon_count : 3 Overlapped_tx_length : 3925 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128849170 Intersect_end : 128853095 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902934Gene_name : LOC124902934; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_007063311 Tx_version : 1 Tx_start : 52016542 Tx_end : 52033473 Exon_count : 2 Overlapped_tx_length : 16931 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52016542 Intersect_end : 52033473 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369896Gene_name : LOC105369896; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_001749251 Tx_version : 2 Tx_start : 91276224 Tx_end : 91637394 Exon_count : 9 Overlapped_tx_length : 361170 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91276224 Intersect_end : 91637394 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369901Gene_name : LOC105369901; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_007063580 Tx_version : 1 Tx_start : 91916293 Tx_end : 91969377 Exon_count : 6 Overlapped_tx_length : 53084 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 91916293 Intersect_end : 91969377 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370012Gene_name : LOC105370012; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : XR_945405 Tx_version : 3 Tx_start : 117513552 Tx_end : 117517221 Exon_count : 3 Overlapped_tx_length : 3669 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 117513552 Intersect_end : 117517221 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984530Gene_name : LOC107984530; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_001749202 Tx_version : 1 Tx_start : 71708464 Tx_end : 71731049 Exon_count : 3 Overlapped_tx_length : 22585 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71708464 Intersect_end : 71731049 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:71703265-71785772 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369847Gene_name : LOC105369847; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_945110 Tx_version : 4 Tx_start : 76002371 Tx_end : 76009682 Exon_count : 4 Overlapped_tx_length : 7311 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 76002371 Intersect_end : 76009682 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:75997027-76015616 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903104Gene_name : LOC124903104; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : XR_007063641 Tx_version : 1 Tx_start : 66345718 Tx_end : 66345822 Exon_count : 1 Overlapped_tx_length : 104 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 66345718 Intersect_end : 66345822 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903003Gene_name : LOC124903003; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063434 Tx_version : 1 Tx_start : 104399558 Tx_end : 104401893 Exon_count : 2 Overlapped_tx_length : 2335 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104399558 Intersect_end : 104401893 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101928274Gene_name : LOC101928274; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.23 Location2 : UTR Tx : XR_001749342 Tx_version : 3 Tx_start : 118114344 Tx_end : 118135992 Exon_count : 4 Overlapped_tx_length : 21648 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 118114344 Intersect_end : 118135992 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984499Gene_name : LOC107984499; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_001749091 Tx_version : 2 Tx_start : 41409457 Tx_end : 41412284 Exon_count : 2 Overlapped_tx_length : 2827 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 41409457 Intersect_end : 41412284 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902981Gene_name : LOC124902981; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_007063401 Tx_version : 1 Tx_start : 89398199 Tx_end : 89424786 Exon_count : 2 Overlapped_tx_length : 26587 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89398199 Intersect_end : 89424786 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
12:89421154-89421277P_loss_coord : 12:89421154-89421277 P_loss_source : dbVar:nssv18790162 P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903010Gene_name : LOC124903010; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063446 Tx_version : 1 Tx_start : 107712381 Tx_end : 107715402 Exon_count : 2 Overlapped_tx_length : 3021 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107712381 Intersect_end : 107715402 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370042Gene_name : LOC105370042; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_945477 Tx_version : 4 Tx_start : 123712765 Tx_end : 123723090 Exon_count : 3 Overlapped_tx_length : 10325 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123712765 Intersect_end : 123723090 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : ALG9_congenital_disorder_of_glycosylation; Cutis_laxa_with_osteodystrophy |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903039Gene_name : LOC124903039; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063500 Tx_version : 1 Tx_start : 122864135 Tx_end : 122865357 Exon_count : 2 Overlapped_tx_length : 1222 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 122864135 Intersect_end : 122865357 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
nsv517200B_loss_source : nsv517200 B_loss_coord : 12:122827505-123169951 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903071Gene_name : LOC124903071; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_007063566 Tx_version : 1 Tx_start : 60261704 Tx_end : 60265882 Exon_count : 2 Overlapped_tx_length : 4178 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 60261704 Intersect_end : 60265882 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:59445875-60579362 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903005Gene_name : LOC124903005; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063435 Tx_version : 1 Tx_start : 105072351 Tx_end : 105074016 Exon_count : 2 Overlapped_tx_length : 1665 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 105072351 Intersect_end : 105074016 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903120Gene_name : LOC124903120; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : XR_007063652 Tx_version : 1 Tx_start : 55874677 Tx_end : 55874841 Exon_count : 1 Overlapped_tx_length : 164 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 55874677 Intersect_end : 55874841 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370010Gene_name : LOC105370010; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.22 Location2 : UTR Tx : XR_945398 Tx_version : 3 Tx_start : 117105903 Tx_end : 117121037 Exon_count : 4 Overlapped_tx_length : 15134 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 117105903 Intersect_end : 117121037 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903001Gene_name : LOC124903001; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063430 Tx_version : 1 Tx_start : 103925472 Tx_end : 103926291 Exon_count : 2 Overlapped_tx_length : 819 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103925472 Intersect_end : 103926291 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100335030Gene_name : LOC100335030; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : NR_033267 Tx_version : 1 Tx_start : 49389173 Tx_end : 49392335 Exon_count : 1 Overlapped_tx_length : 3162 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49389173 Intersect_end : 49392335 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:49378217-49410217 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902980Gene_name : LOC124902980; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_007063400 Tx_version : 1 Tx_start : 89382138 Tx_end : 89394697 Exon_count : 2 Overlapped_tx_length : 12559 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 89382138 Intersect_end : 89394697 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC102724960Gene_name : LOC102724960; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_945224 Tx_version : 3 Tx_start : 94472316 Tx_end : 94538965 Exon_count : 3 Overlapped_tx_length : 66649 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 94472316 Intersect_end : 94538965 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902983Gene_name : LOC124902983; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063406 Tx_version : 1 Tx_start : 92597705 Tx_end : 92655007 Exon_count : 2 Overlapped_tx_length : 57302 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92597705 Intersect_end : 92655007 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105379613Gene_name : LOC105379613; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_001749379 Tx_version : 1 Tx_start : 126350020 Tx_end : 126357727 Exon_count : 3 Overlapped_tx_length : 7707 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126350020 Intersect_end : 126357727 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126249820-126388933 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369981Gene_name : LOC105369981; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_945338 Tx_version : 2 Tx_start : 111012393 Tx_end : 111025698 Exon_count : 3 Overlapped_tx_length : 13305 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111012393 Intersect_end : 111025698 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903045Gene_name : LOC124903045; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063509 Tx_version : 1 Tx_start : 124742303 Tx_end : 124743187 Exon_count : 2 Overlapped_tx_length : 884 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 124742303 Intersect_end : 124743187 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902933Gene_name : LOC124902933; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_007063307 Tx_version : 1 Tx_start : 51174554 Tx_end : 51181634 Exon_count : 2 Overlapped_tx_length : 7080 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 51174554 Intersect_end : 51181634 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC102724421Gene_name : LOC102724421; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.3 Location2 : UTR Tx : NR_120490 Tx_version : 1 Tx_start : 67077625 Tx_end : 67096284 Exon_count : 4 Overlapped_tx_length : 18659 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 67077625 Intersect_end : 67096284 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369782Gene_name : LOC105369782; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.2 Location2 : UTR Tx : XR_944995 Tx_version : 4 Tx_start : 56103813 Tx_end : 56104419 Exon_count : 2 Overlapped_tx_length : 606 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 56103813 Intersect_end : 56104419 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370044Gene_name : LOC105370044; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_945481 Tx_version : 4 Tx_start : 123765167 Tx_end : 123790927 Exon_count : 5 Overlapped_tx_length : 25760 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123765167 Intersect_end : 123790927 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC728739Gene_name : LOC728739; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_037629 Tx_version : 1 Tx_start : 107903149 Tx_end : 107903771 Exon_count : 1 Overlapped_tx_length : 622 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107903149 Intersect_end : 107903771 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903070Gene_name : LOC124903070; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : XR_007063565 Tx_version : 1 Tx_start : 60119461 Tx_end : 60127312 Exon_count : 2 Overlapped_tx_length : 7851 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 60119461 Intersect_end : 60127312 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:59445875-60579362 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369932Gene_name : LOC105369932; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_002957448 Tx_version : 1 Tx_start : 98295040 Tx_end : 98304725 Exon_count : 3 Overlapped_tx_length : 9685 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 98295040 Intersect_end : 98304725 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
ZNF664-RFLNAGene_name : ZNF664-RFLNA; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : 5'UTR-3'UTR Tx : NM_001204299 Tx_version : 3 Tx_start : 123973214 Tx_end : 124316024 Exon_count : 5 Overlapped_tx_length : 342810 Overlapped_CDS_length : 408 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123973214 Intersect_end : 124316024 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC101929974Gene_name : LOC101929974; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : NR_187799 Tx_version : 1 Tx_start : 131462857 Tx_end : 131529874 Exon_count : 4 Overlapped_tx_length : 67017 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131462857 Intersect_end : 131529874 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900325Gene_name : LOC124900325; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_007063629 Tx_version : 1 Tx_start : 93266016 Tx_end : 93266096 Exon_count : 1 Overlapped_tx_length : 80 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 93266016 Intersect_end : 93266096 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272; chr12:93254533-93266545; chr12:93265068-93270032; chr12:93265224-93270224 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124900319Gene_name : LOC124900319; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_007063622 Tx_version : 1 Tx_start : 73764278 Tx_end : 73764413 Exon_count : 1 Overlapped_tx_length : 135 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 73764278 Intersect_end : 73764413 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:73761641-73859621 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902990Gene_name : LOC124902990; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_007063413 Tx_version : 1 Tx_start : 96052647 Tx_end : 96053553 Exon_count : 2 Overlapped_tx_length : 906 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 96052647 Intersect_end : 96053553 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:96043531-96105021 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902926Gene_name : LOC124902926; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_007063290 Tx_version : 1 Tx_start : 47801079 Tx_end : 47805633 Exon_count : 2 Overlapped_tx_length : 4554 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 47801079 Intersect_end : 47805633 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369881Gene_name : LOC105369881; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.32 Location2 : UTR Tx : XR_945161 Tx_version : 2 Tx_start : 87612216 Tx_end : 87670522 Exon_count : 5 Overlapped_tx_length : 58306 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 87612216 Intersect_end : 87670522 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100130268Gene_name : LOC100130268; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : NR_149000 Tx_version : 1 Tx_start : 75234739 Tx_end : 75251865 Exon_count : 2 Overlapped_tx_length : 17126 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 75234739 Intersect_end : 75251865 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903107Gene_name : LOC124903107; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.2 Location2 : UTR Tx : XR_007063644 Tx_version : 1 Tx_start : 77162925 Tx_end : 77163025 Exon_count : 1 Overlapped_tx_length : 100 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 77162925 Intersect_end : 77163025 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370058Gene_name : LOC105370058; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_945503 Tx_version : 2 Tx_start : 125994249 Tx_end : 126001995 Exon_count : 2 Overlapped_tx_length : 7746 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125994249 Intersect_end : 126001995 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369917Gene_name : LOC105369917; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_001749265 Tx_version : 1 Tx_start : 95337569 Tx_end : 95405498 Exon_count : 11 Overlapped_tx_length : 67929 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 95337569 Intersect_end : 95405498 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369938Gene_name : LOC105369938; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_001749279 Tx_version : 2 Tx_start : 101598553 Tx_end : 101615784 Exon_count : 5 Overlapped_tx_length : 17231 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101598553 Intersect_end : 101615784 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369886Gene_name : LOC105369886; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_945167 Tx_version : 3 Tx_start : 88749452 Tx_end : 88770156 Exon_count : 3 Overlapped_tx_length : 20704 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88749452 Intersect_end : 88770156 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369935Gene_name : LOC105369935; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_945261 Tx_version : 2 Tx_start : 101526369 Tx_end : 101534280 Exon_count : 3 Overlapped_tx_length : 7911 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 101526369 Intersect_end : 101534280 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903011Gene_name : LOC124903011; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063453 Tx_version : 1 Tx_start : 108893464 Tx_end : 108900496 Exon_count : 2 Overlapped_tx_length : 7032 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108893464 Intersect_end : 108900496 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903111Gene_name : LOC124903111; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_007063647 Tx_version : 1 Tx_start : 31450169 Tx_end : 31450273 Exon_count : 1 Overlapped_tx_length : 104 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31450169 Intersect_end : 31450273 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369968Gene_name : LOC105369968; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063447 Tx_version : 1 Tx_start : 108628645 Tx_end : 108646665 Exon_count : 4 Overlapped_tx_length : 18020 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 108628645 Intersect_end : 108646665 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902992Gene_name : LOC124902992; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_007063416 Tx_version : 1 Tx_start : 97019568 Tx_end : 97025311 Exon_count : 3 Overlapped_tx_length : 5743 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 97019568 Intersect_end : 97025311 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369753Gene_name : LOC105369753; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.11 Location2 : UTR Tx : XR_944923 Tx_version : 3 Tx_start : 48279005 Tx_end : 48307429 Exon_count : 4 Overlapped_tx_length : 28424 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 48279005 Intersect_end : 48307429 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:48266859-48326562; chr12:48277817-48320217; chr12:48278450-48307432 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903081Gene_name : LOC124903081; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_007063589 Tx_version : 1 Tx_start : 115150115 Tx_end : 115170797 Exon_count : 2 Overlapped_tx_length : 20682 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 115150115 Intersect_end : 115170797 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369831Gene_name : LOC105369831; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_945081 Tx_version : 2 Tx_start : 71216833 Tx_end : 71220834 Exon_count : 3 Overlapped_tx_length : 4001 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 71216833 Intersect_end : 71220834 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC100506869Gene_name : LOC100506869; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q14.1 Location2 : UTR Tx : NR_126341 Tx_version : 1 Tx_start : 58591701 Tx_end : 58812669 Exon_count : 2 Overlapped_tx_length : 220968 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 58591701 Intersect_end : 58812669 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902917Gene_name : LOC124902917; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063274 Tx_version : 1 Tx_start : 38610435 Tx_end : 38620583 Exon_count : 2 Overlapped_tx_length : 10148 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 38610435 Intersect_end : 38620583 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370063Gene_name : LOC105370063; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_007063518 Tx_version : 1 Tx_start : 126976860 Tx_end : 127028037 Exon_count : 6 Overlapped_tx_length : 51177 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 126976860 Intersect_end : 127028037 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:126929324-127229788; chr12:126945957-127328431 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369887Gene_name : LOC105369887; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.33 Location2 : UTR Tx : XR_945168 Tx_version : 3 Tx_start : 88782020 Tx_end : 88784284 Exon_count : 3 Overlapped_tx_length : 2264 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 88782020 Intersect_end : 88784284 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:88779192-88790829 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369952Gene_name : LOC105369952; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063436 Tx_version : 1 Tx_start : 104984195 Tx_end : 104986370 Exon_count : 2 Overlapped_tx_length : 2175 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104984195 Intersect_end : 104986370 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903000Gene_name : LOC124903000; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063429 Tx_version : 1 Tx_start : 103802693 Tx_end : 103815024 Exon_count : 2 Overlapped_tx_length : 12331 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103802693 Intersect_end : 103815024 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903083Gene_name : LOC124903083; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063602 Tx_version : 1 Tx_start : 128823943 Tx_end : 128829446 Exon_count : 2 Overlapped_tx_length : 5503 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128823943 Intersect_end : 128829446 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369947Gene_name : LOC105369947; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_945286 Tx_version : 2 Tx_start : 104140230 Tx_end : 104148585 Exon_count : 3 Overlapped_tx_length : 8355 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 104140230 Intersect_end : 104148585 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369725Gene_name : LOC105369725; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p11.21 Location2 : UTR Tx : XR_931503 Tx_version : 2 Tx_start : 31958492 Tx_end : 31959304 Exon_count : 2 Overlapped_tx_length : 812 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 31958492 Intersect_end : 31959304 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369759Gene_name : LOC105369759; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.12 Location2 : UTR Tx : XR_007063295 Tx_version : 1 Tx_start : 49092093 Tx_end : 49095744 Exon_count : 4 Overlapped_tx_length : 3651 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 49092093 Intersect_end : 49095744 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984452Gene_name : LOC107984452; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_001749406 Tx_version : 2 Tx_start : 131073636 Tx_end : 131074235 Exon_count : 2 Overlapped_tx_length : 599 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131073636 Intersect_end : 131074235 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:131070444-131103799; chr12:131071539-131098897 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369735Gene_name : LOC105369735; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063560 Tx_version : 1 Tx_start : 40207520 Tx_end : 40209458 Exon_count : 2 Overlapped_tx_length : 1938 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 40207520 Intersect_end : 40209458 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:39639819-40952816 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902919Gene_name : LOC124902919; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063278 Tx_version : 1 Tx_start : 39447155 Tx_end : 39448769 Exon_count : 2 Overlapped_tx_length : 1614 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 39447155 Intersect_end : 39448769 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369875Gene_name : LOC105369875; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_945151 Tx_version : 2 Tx_start : 84492396 Tx_end : 84508906 Exon_count : 3 Overlapped_tx_length : 16510 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 84492396 Intersect_end : 84508906 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369983Gene_name : LOC105369983; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11-q24.12 Location2 : UTR Tx : XR_945341 Tx_version : 2 Tx_start : 111285228 Tx_end : 111320162 Exon_count : 4 Overlapped_tx_length : 34934 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111285228 Intersect_end : 111320162 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : CUX2-related_condition; Developmental_and_epileptic_encephalopathy,_67 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903009Gene_name : LOC124903009; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007063445 Tx_version : 1 Tx_start : 107097435 Tx_end : 107098862 Exon_count : 2 Overlapped_tx_length : 1427 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 107097435 Intersect_end : 107098862 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903084Gene_name : LOC124903084; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_007063603 Tx_version : 1 Tx_start : 128867597 Tx_end : 128871715 Exon_count : 3 Overlapped_tx_length : 4118 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 128867597 Intersect_end : 128871715 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369998Gene_name : LOC105369998; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.21 Location2 : UTR Tx : XR_007063469 Tx_version : 1 Tx_start : 114414356 Tx_end : 114448581 Exon_count : 3 Overlapped_tx_length : 34225 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 114414356 Intersect_end : 114448581 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902922Gene_name : LOC124902922; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063281 Tx_version : 1 Tx_start : 44312889 Tx_end : 44323277 Exon_count : 2 Overlapped_tx_length : 10388 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 44312889 Intersect_end : 44323277 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369975Gene_name : LOC105369975; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_945333 Tx_version : 2 Tx_start : 109840326 Tx_end : 109843482 Exon_count : 2 Overlapped_tx_length : 3156 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109840326 Intersect_end : 109843482 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903012Gene_name : LOC124903012; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063454 Tx_version : 1 Tx_start : 109880897 Tx_end : 109881401 Exon_count : 3 Overlapped_tx_length : 504 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 109880897 Intersect_end : 109881401 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:109864402-109882710 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903051Gene_name : LOC124903051; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_007063524 Tx_version : 1 Tx_start : 127613342 Tx_end : 127638981 Exon_count : 3 Overlapped_tx_length : 25639 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 127613342 Intersect_end : 127638981 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369839Gene_name : LOC105369839; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.1 Location2 : UTR Tx : XR_001749105 Tx_version : 1 Tx_start : 73308187 Tx_end : 73342971 Exon_count : 3 Overlapped_tx_length : 34784 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 73308187 Intersect_end : 73342971 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903041Gene_name : LOC124903041; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.31 Location2 : UTR Tx : XR_007063502 Tx_version : 1 Tx_start : 123441443 Tx_end : 123443155 Exon_count : 2 Overlapped_tx_length : 1712 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 123441443 Intersect_end : 123443155 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903018Gene_name : LOC124903018; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063461 Tx_version : 1 Tx_start : 111189231 Tx_end : 111200366 Exon_count : 2 Overlapped_tx_length : 11135 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 111189231 Intersect_end : 111200366 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902916Gene_name : LOC124902916; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q12 Location2 : UTR Tx : XR_007063273 Tx_version : 1 Tx_start : 38166723 Tx_end : 38167634 Exon_count : 2 Overlapped_tx_length : 911 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 38166723 Intersect_end : 38167634 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369902Gene_name : LOC105369902; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22 Location2 : UTR Tx : XR_945203 Tx_version : 3 Tx_start : 92349344 Tx_end : 92388403 Exon_count : 3 Overlapped_tx_length : 39059 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 92349344 Intersect_end : 92388403 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr12_bbc157a2B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124903016Gene_name : LOC124903016; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.11 Location2 : UTR Tx : XR_007063459 Tx_version : 1 Tx_start : 110470288 Tx_end : 110489293 Exon_count : 3 Overlapped_tx_length : 19005 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110470288 Intersect_end : 110489293 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC124902935Gene_name : LOC124902935; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q13.13 Location2 : UTR Tx : XR_007063313 Tx_version : 1 Tx_start : 52311109 Tx_end : 52311979 Exon_count : 2 Overlapped_tx_length : 870 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 52311109 Intersect_end : 52311979 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:52288216-52316216 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC107984536Gene_name : LOC107984536; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q21.31 Location2 : UTR Tx : XR_001749234 Tx_version : 2 Tx_start : 83888847 Tx_end : 84186576 Exon_count : 4 Overlapped_tx_length : 297729 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 83888847 Intersect_end : 84186576 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370082Gene_name : LOC105370082; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.33 Location2 : UTR Tx : XR_945558 Tx_version : 3 Tx_start : 131225198 Tx_end : 131262761 Exon_count : 4 Overlapped_tx_length : 37563 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131225198 Intersect_end : 131262761 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105370055Gene_name : LOC105370055; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q24.32 Location2 : UTR Tx : XR_945494 Tx_version : 2 Tx_start : 125704500 Tx_end : 125707950 Exon_count : 3 Overlapped_tx_length : 3450 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 125704500 Intersect_end : 125707950 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr12:125699983-125715650 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369945Gene_name : LOC105369945; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_135004 Tx_version : 1 Tx_start : 103496039 Tx_end : 103497695 Exon_count : 3 Overlapped_tx_length : 1656 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 103496039 Intersect_end : 103497695 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 100967822 |
splitAnnotation_mode : split |
LOC105369828Gene_name : LOC105369828; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q15 Location2 : UTR Tx : XR_001749196 Tx_version : 2 Tx_start : 70468078 Tx_end : 70571450 Exon_count : 9 Overlapped_tx_length : 103372 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 70468078 Intersect_end : 70571450 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
5ACMG_class : 5 AnnotSV_ranking_score : 2.2 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3C (90 genes, +0.90): 35+ genes wholly or partially included 5H (BCLAF1/ENPP1/L3MBTL3/MYB/RE:HOXA13, +0.30): The patient phenotype is highly specific and consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.7). |
DELSV_type : DEL SV_length : 7000000 Gene_count : 90 |
fullAnnotation_mode : full |
LAMA2; LOC124901401; LOC102723409; ARHGAP18; TMEM244; [...90genes]Gene_name : LAMA2; LOC124901401; LOC102723409; ARHGAP18; TMEM244; LOC105377999; L3MBTL3; SAMD3; LOC112267974; TMEM200A; LOC105378002; LOC105378003; SMLR1; EPB41L2; LOC105378004; LOC102723445; AKAP7; LOC105378005; ARG1; MED23; ENPP3; OR2A4; CTAGE9; MIR548H5; ENPP1; CCN2-AS1; CCN2; MIR548AJ1; LINC01013; MOXD1; STX7; TAAR9; TAAR8; TAAR6; TAAR5; TAAR3P; TAAR2; TAAR1; VNN1; VNN3P; VNN2; SLC18B1; LOC107986644; RPS12; SNORD101; SNORD100; SNORA33; LOC105378008; LINC00326; LOC124901231; EYA4; LOC124901403; TARID; LOC124901402; LINC01312; TCF21; TBPL1; LOC128092253; SLC2A12; LOC124901404; HMGA1P7; SGK1; LOC124901531; LOC105378009; CT69; LINC01010; LINC03002; LOC101928277; ALDH8A1; HBS1L; MIR3662; LOC124901405; LOC124901406; LOC105378010; MYB; LOC105378011; MIR548A2; AHI1; LOC124901407; AHI1-DT; LINC02524; LOC105378012; LOC101928326; PDE7B; LOC101928373; PDE7B-AS1; MTFR2; BCLAF1; LOC124901408; MAP7; LOEUF_bin : 1 GnomAD_pLI : 9.9744e-01 ExAC_pLI : 9.9950e-01 HI : 3 TS : . DDD_HI_percent : 92.39 ExAC_cnvZ : 1.0237200325896 ExAC_delZ : 0.920371553191268 ExAC_dupZ : 0.890913886813156 ExAC_synZ : 3.32467390756765 ExAC_misZ : 4.68045517089823 Closest_left : LOC105377998 Closest_right : MAP7-AS1 |
.Location : . CytoBand : q22.33-q23.3 |
0.8525Exomiser_gene_pheno_score : 0.8525 |
CPhenoGenius_specificity : C |
HOXA13 (EX=1.0000/morbid/RE=mTL_miRNA); IL6ST[...]RE_gene : HOXA13 (EX=1.0000/morbid/RE=mTL_miRNA); IL6ST (EX=0.8959/morbid/RE=mTL_miRNA); LMBR1 (EX=0.8742/morbid/RE=mTL_miRNA); ESCO2 (EX=0.8612/morbid/RE=mTL_miRNA); KANSL1 (HI=3/EX=0.8600/morbid/RE=mTL_miRNA); PSAT1 (EX=0.8525/morbid/RE=mTL_miRNA); CCBE1 (EX=0.8484/morbid/RE=mTL_miRNA); SKI (EX=0.8478/morbid/RE=mTL_miRNA); NFIA (HI=3/EX=0.8264/morbid/RE=mTL_miRNA); DDX3X (HI=3/EX=0.8221/morbid/RE=mTL_miRNA); AMER1 (EX=0.8152/morbid/RE=mTL_miRNA); GTF2H5 (EX=0.8078/morbid/RE=mTL_miRNA); CTCF (HI=3/EX=0.8061/morbid/RE=mTL_miRNA); SMC1A (HI=3/EX=0.8038/morbid/RE=mTL_miRNA); PDGFRA (EX=0.8026/morbid/RE=mTL_miRNA); CBFB (EX=0.7836/morbid/RE=mTL_miRNA); SOX11 (HI=3/EX=0.7815/morbid/RE=mTL_miRNA); SLC35D1 (EX=0.7598/morbid/RE=mTL_miRNA); KRAS (PG=A/EX=0.7598/morbid/RE=mTL_miRNA); RAC3 (EX=0.7533/morbid/RE=mTL_miRNA); BBS5 (EX=0.7489/morbid/RE=mTL_miRNA); CEP120 (EX=0.7420/morbid/RE=mTL_miRNA); ZMPSTE24 (EX=0.7414/morbid/RE=mTL_miRNA); NRAS (EX=0.7411/morbid/RE=mTL_miRNA); RRAS2 (EX=0.7411/morbid/RE=mTL_miRNA); PRKG2 (EX=0.7272/morbid/RE=mTL_miRNA); PKD1 (HI=3/EX=0.7262/morbid/RE=mTL_miRNA); LNPK (EX=0.7228/morbid/RE=mTL_miRNA); LZTFL1 (EX=0.7218/morbid/RE=mTL_miRNA); RLIM (EX=0.7187/morbid/RE=mTL_miRNA); ARID1A (HI=3/EX=0.7152/morbid/RE=mTL_miRNA); GPC4 (EX=0.7151/morbid/RE=mTL_miRNA); RPL10A (EX=0.8371/RE=mTL_miRNA); INTU (EX=0.8336/RE=mTL_miRNA); JMJD1C (EX=0.8300/RE=mTL_miRNA); ADAMTS5 (EX=0.8271/RE=mTL_miRNA); SNAI2 (EX=0.8056/RE=mTL_miRNA); RECK (EX=0.7694/RE=mTL_miRNA); RDH11 (EX=0.7598/RE=mTL_miRNA); VEGFA (EX=0.7459/RE=mTL_miRNA); SUCO (EX=0.7159/RE=mTL_miRNA); ACSL4 (morbid/RE=mTL_miRNA); DDX6 (morbid/RE=mTL_miRNA); HPRT1 (HI=3/morbid/RE=mTL_miRNA); WNK1 (morbid/RE=mTL_miRNA); EPHB4 (morbid/RE=mTL_miRNA); PDZD8 (morbid/RE=mTL_miRNA); PIK3CG (morbid/RE=mTL_miRNA); CD59 (morbid/RE=mTL_miRNA); MCC (morbid/RE=mTL_miRNA); CTNNA3 (morbid/RE=mTL_miRNA); PITX3 (morbid/RE=mTL_miRNA); ARL13B (morbid/RE=mTL_miRNA); TRMT5 (morbid/RE=mTL_miRNA); FGF5 (morbid/RE=mTL_miRNA); POLR1B (morbid/RE=mTL_miRNA); HNRNPDL (morbid/RE=mTL_miRNA); ANGPTL3 (morbid/RE=mTL_miRNA); ARF1 (morbid/RE=mTL_miRNA); ABCB7 (morbid/RE=mTL_miRNA); FXN (morbid/RE=mTL_miRNA); PPP1R15B (morbid/RE=mTL_miRNA); ASH1L (HI=3/morbid/RE=mTL_miRNA); IKZF5 (morbid/RE=mTL_miRNA); WEE2 (morbid/RE=mTL_miRNA); PCK1 (morbid/RE=mTL_miRNA); GAN (morbid/RE=mTL_miRNA); MYO5A (morbid/RE=mTL_miRNA); PPIP5K2 (morbid/RE=mTL_miRNA); NHS (HI=3/morbid/RE=mTL_miRNA); ETV6 (HI=3/morbid/RE=mTL_miRNA); IMP3 (morbid/RE=mTL_miRNA); DDR2 (morbid/RE=mTL_miRNA); LDHD (morbid/RE=mTL_miRNA); PTPN14 (morbid/RE=mTL_miRNA); MARVELD2 (morbid/RE=mTL_miRNA); RNF2 (morbid/RE=mTL_miRNA); ALG1 (morbid/RE=mTL_miRNA); LMAN1 (morbid/RE=mTL_miRNA); MKRN3 (morbid/RE=mTL_miRNA); PANX1 (morbid/RE=mTL_miRNA); RSRC1 (morbid/RE=mTL_miRNA); TACR3 (morbid/RE=mTL_miRNA); CRLS1 (morbid/RE=mTL_miRNA); TNPO2 (morbid/RE=mTL_miRNA); GOT1 (morbid/RE=mTL_miRNA); SIK1 (morbid/RE=mTL_miRNA); ACTA1 (morbid/RE=mTL_miRNA); YAP1 (morbid/RE=mTL_miRNA); ZBTB20 (morbid/RE=mTL_miRNA); ATP9A (morbid/RE=mTL_miRNA); GGCX (morbid/RE=mTL_miRNA); RARB (morbid/RE=mTL_miRNA); MEF2C (HI=3/morbid/RE=mTL_miRNA); FRMD5 (morbid/RE=mTL_miRNA); MED12L (morbid/RE=mTL_miRNA); CHEK2 (HI=3/morbid/RE=mTL_miRNA); CLN8 (morbid/RE=mTL_miRNA); XIAP (HI=3/morbid/RE=mTL_miRNA); ADAMTS18 (morbid/RE=mTL_miRNA); AGO2 (morbid/RE=mTL_miRNA); SLC16A1 (morbid/RE=mTL_miRNA); CYP2U1 (morbid/RE=mTL_miRNA); HINT1 (morbid/RE=mTL_miRNA); RAB33B (morbid/RE=mTL_miRNA); ACVR2B (morbid/RE=mTL_miRNA); STK4 (morbid/RE=mTL_miRNA); VRK1 (morbid/RE=mTL_miRNA); DGKE (morbid/RE=mTL_miRNA); COL4A3 (morbid/RE=mTL_miRNA); LIPA (morbid/RE=mTL_miRNA); SUZ12 (morbid/RE=mTL_miRNA); ZNF711 (morbid/RE=mTL_miRNA); HNRNPU (morbid/RE=mTL_miRNA); TNFAIP3 (morbid/RE=mTL_miRNA); DNAAF3 (morbid/RE=mTL_miRNA); GABRB3 (morbid/RE=mTL_miRNA); CALM1 (morbid/RE=mTL_miRNA); GDAP2 (morbid/RE=mTL_miRNA); SLC5A6 (morbid/RE=mTL_miRNA); TUBB2A (morbid/RE=mTL_miRNA); SLX4 (morbid/RE=mTL_miRNA); BACH1 (morbid/RE=mTL_miRNA); UFM1 (morbid/RE=mTL_miRNA); MFF (morbid/RE=mTL_miRNA); ECHS1 (morbid/RE=mTL_miRNA); SH3TC2 (morbid/RE=mTL_miRNA); POFUT1 (morbid/RE=mTL_miRNA); SLC25A11 (morbid/RE=mTL_miRNA); MAP3K1 (morbid/RE=mTL_miRNA); PRLR (morbid/RE=mTL_miRNA); POLH (morbid/RE=mTL_miRNA); ZIC2 (HI=3/morbid/RE=mTL_miRNA); MAP2K1 (morbid/RE=mTL_miRNA); SLC6A8 (HI=3/morbid/RE=mTL_miRNA); CALR (morbid/RE=mTL_miRNA); GSR (morbid/RE=mTL_miRNA); MDFIC (morbid/RE=mTL_miRNA); ZFHX3 (morbid/RE=mTL_miRNA); PGK1 (morbid/RE=mTL_miRNA); ABHD5 (morbid/RE=mTL_miRNA); MMADHC (morbid/RE=mTL_miRNA); MYO6 (morbid/RE=mTL_miRNA); KIF1B (morbid/RE=mTL_miRNA); ERI1 (morbid/RE=mTL_miRNA); FXR1 (morbid/RE=mTL_miRNA); SNCB (morbid/RE=mTL_miRNA); RORA (morbid/RE=mTL_miRNA); LMNB2 (morbid/RE=mTL_miRNA); ESR1 (morbid/RE=mTL_miRNA); NDRG1 (morbid/RE=mTL_miRNA); PEX7 (morbid/RE=EA_enhancer+mTL_miRNA); CLDN16 (morbid/RE=mTL_miRNA); VLDLR (morbid/RE=mTL_miRNA); MYOCD (morbid/RE=mTL_miRNA); FANCC (morbid/RE=mTL_miRNA); DEF6 (morbid/RE=mTL_miRNA); PACS1 (morbid/RE=mTL_miRNA); EXOC2 (morbid/RE=mTL_miRNA); GTPBP2 (morbid/RE=mTL_miRNA); IGF1R (HI=3/morbid/RE=mTL_miRNA); SYT2 (morbid/RE=mTL_miRNA); ILDR1 (morbid/RE=mTL_miRNA); DDB1 (morbid/RE=mTL_miRNA); PFN1 (morbid/RE=mTL_miRNA); TBL1XR1 (HI=3/morbid/RE=mTL_miRNA); NHLRC2 (morbid/RE=mTL_miRNA); APP (morbid/RE=mTL_miRNA); TRIM37 (morbid/RE=mTL_miRNA); ACTN4 (morbid/RE=mTL_miRNA); USP53 (morbid/RE=mTL_miRNA); CDKN1B (HI=3/morbid/RE=mTL_miRNA); HES7 (morbid/RE=mTL_miRNA); ALG9 (morbid/RE=mTL_miRNA); HCFC1 (morbid/RE=mTL_miRNA); EMP2 (morbid/RE=mTL_miRNA); SMARCAD1 (morbid/RE=mTL_miRNA); OPHN1 (HI=3/morbid/RE=mTL_miRNA); IL6R (morbid/RE=mTL_miRNA); GATM (morbid/RE=mTL_miRNA); SPPL2A (morbid/RE=mTL_miRNA); PAFAH1B1 (HI=3/morbid/RE=mTL_miRNA); SAR1B (morbid/RE=mTL_miRNA); MTHFD1 (morbid/RE=mTL_miRNA); SET (morbid/RE=mTL_miRNA); PURA (HI=3/morbid/RE=mTL_miRNA); NCKAP1 (HI=3/RE=mTL_miRNA); PTCHD1 (HI=3/RE=mTL_miRNA); |
6:129464281-129481449; 6:129484762-129489748;[...]P_loss_coord : 6:129464281-129481449; 6:129484762-129489748; 6:129486455-129486642; 6:129486465-129486632; 6:129486475-129486622; 6:129502640-129514615; 6:129505191-129505365; 6:129516171-129516367; 6:129516181-129516357; 6:130447890-135688079; 6:131573226-131584329; 6:131576654-131583918; 6:131579078-131581388; 6:131582441-131582677; 6:131598715-131628242; 6:131688638-132215008; 6:131808020-131895155; 6:131885763-131891378; 6:131885764-131891377; 6:133201722-134220173; 6:133240594-133532128; 6:133241357-133532128; 6:133461095-133462784; 6:133462765-133464858; 6:133462765-133467609; 6:133506021-133528840; 6:133525016-133528805; 6:135249941-136439720; 6:135358113-135358207; 6:135358113-135433276; 6:135389556-135414641; 6:135390348-135414641; 6:135394756-135411564; 6:135394757-135411564; 6:135400147-135409846; 6:135427205-135497740; 6:135428610-135463326; 6:135428624-135463312; 6:135429863-135433276; 6:135429883-135433256; 6:135433258-135442581; 6:135437870-135441094; 6:135448291-135448475; 6:135457584-135465286 P_loss_source : CLN:28632; HI3:EYA4; dbVar:nssv15120194; dbVar:nssv15120618; dbVar:nssv15123008; dbVar:nssv15129201; dbVar:nssv15129242; dbVar:nssv15129438; dbVar:nssv15130008; dbVar:nssv15146071; dbVar:nssv15149459; dbVar:nssv15153018; dbVar:nssv15154202; dbVar:nssv15770692; dbVar:nssv15771048; dbVar:nssv15772892; nssv15776067; dbVar:nssv15772897; nssv17970152; dbVar:nssv15774884; nssv15776636; dbVar:nssv16213368; dbVar:nssv16213810; dbVar:nssv16214266; dbVar:nssv16866445; dbVar:nssv17171381; dbVar:nssv17171560; dbVar:nssv17171763; dbVar:nssv17172533; dbVar:nssv17649878; dbVar:nssv17956794; dbVar:nssv17968989; dbVar:nssv17974155; dbVar:nssv17976625; dbVar:nssv17976660; dbVar:nssv18330541; dbVar:nssv18786341; dbVar:nssv18786863; dbVar:nssv18786865; dbVar:nssv18789162; dbVar:nssv18789740; dbVar:nssv18791029; morbid:AHI1; morbid:ARG1; morbid:ENPP1; morbid:EYA4; morbid:MED23 P_loss_phen : ?Cardiomyopathy, dilated, 1J, 605362 (3) AD; Deafness, AD 10, 601316 (3) AD; Argininemia, 207800 (3) AR; Arterial calcification, generalized, of infancy, 1, 208000 (3) AR; Cole disease, 615522 (3) AD; Hypophosphatemic rickets, AR, 2, 613312 (3) AR; Diabetes mellitus, non-insulin-dependent, susceptibility to, 125853 (3) AD; Obesity, susceptibility to, 601665 (3) AR,Multifactorial,AD; Hypophosphatemic_rickets,_autosomal_recessive,_2; Intellectual developmental disorder, AR 18, with or without epilepsy, 614249 (3) AR; Joubert syndrome 3, 608629 (3) AR P_loss_hpo : . po_P_loss_phen : Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) AR; Muscular dystrophy, limb-girdle, AR 23, 618138 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15146226; dbVar:nssv18841926; dbVar:nssv17976930; dbVar:nssv15150225; dbVar:nssv15148975; morbid:LAMA2; dbVar:nssv15131062; dbVar:nssv17171753; dbVar:nssv15138374; dbVar:nssv15605893; dbVar:nssv17970913; dbVar:nssv17972732; dbVar:nssv18789170; dbVar:nssv15151456; dbVar:nssv15151457; dbVar:nssv15149497; dbVar:nssv17650006; dbVar:nssv16208825; dbVar:nssv17976284; dbVar:nssv15606074; dbVar:nssv15128437; dbVar:nssv16213178 po_P_loss_coord : 6:108944900-132067720; 6:113857249-130442177; 6:115941809-133892653; 6:122291496-131243323; 6:126494534-132497855; 6:128883138-129516566; 6:128883227-129516367; 6:128883237-129516357; 6:129191314-132131620; 6:129192693-132297852; 6:129391472-129473372; 6:129427743-129460334; 6:129445658-129516357; 6:131066884-137148503; 6:131681321-136839712; 6:132756101-143440445; 6:133489073-139725478; 6:133496204-139717264; 6:134838332-142160056; 6:134918496-146676374; 6:135996607-146345644; 6:136161591-137219383 po_P_loss_percent : 11.29; 5.94; 24.71; 19.95; 50.64; 9.30; 9.27; 9.27; 90.94; 91.47; 19.19; 8.21; 83.03; 88.64; 92.59; 34.64; 47.60; 47.60; 22.12; 13.09; 4.46; 27.99 |
381P_snvindel_nb : 381 P_snvindel_phen : AHI1-related_condition; Abnormality_of_the_musculature; Arginase_deficiency; Arterial_calcification,_generalized,_of_infancy,_1; Autosomal_dominant_nonsyndromic_hearing_loss_10; Congenital_Muscular_Dystrophy,_LAMA2-related; Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency; Coronary_sclerosis,_medial,_of_infancy; Dilated_cardiomyopathy_1J; ENPP1-Related_Disorders; EYA4-related_condition; Elevated_circulating_creatine_kinase_concentration; Exercise-induced_myalgia; Familial_aplasia_of_the_vermis; Global_developmental_delay; Hypophosphatemic_rickets,_autosomal_recessive,_2; Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome; Inborn_genetic_diseases; Intellectual_disability,_autosomal_recessive_18; Joubert_syndrome_1; Joubert_syndrome_3; Joubert_syndrome_and_related_disorders; Joubert_syndrome_with_ocular_defect; LAMA2-related_disorders; LAMA2-related_muscular_dystrophy; Leber_congenital_amaurosis; Merosin_deficient_congenital_muscular_dystrophy; Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23; Myalgia; Nephronophthisis; Nonsyndromic_genetic_hearing_loss; Obesity; Retinal_dystrophy; Retinitis_pigmentosa; Rod-cone_dystrophy; See_cases; Type_2_diabetes_mellitus; Typical_Joubert_syndrome_MRI_findings |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr6:129479092-129479159 dbVar; chr6:129505542-129505759 dbVar; chr6:129552799-129568467 dbVar; chr6:129609533-129609998 dbVar; 6:129609574-129609987 DDD:22163; chr6:129613407-129614046 dbVar; chr6:129624667-129625518 dbVar; chr6:129625219-129625252 HPRC:pbsv.DEL.8316; 6:129625259-129625318 CMRI:72_pbsv.DEL.1616_duplicate1; 6:129625369-129625480 CMRI:11_pbsv.DEL.2957_duplicate1; chr6:129625434-129625496 HPRC:pbsv.DEL.8320; chr6:129629038-129636663 dbVar; chr6:129643628-129643805 dbVar; chr6:129672256-129672389 dbVar; chr6:129787548-129787935 dbVar; chr6:129807306-129808248 dbVar; chr6:129838858-129840894 dbVar; chr6:129866621-129879071 dbVar; chr6:129892553-129892645 dbVar; chr6:129975407-129975512 dbVar; chr6:129996841-129996865 HPRC:pbsv.DEL.8335... po_B_loss_someG_coord : chr6:129453789-129458517 dbVar; chr6:129484760-129489745 dbVar; chr6:129507091-129507926 dbVar; chr6:129599153-129599176 HPRC:pbsv.DEL.8312; 6:129609534-129609998 1000g; chr6:129609574-129610023 dbVar; chr6:129617597-129669138 dbVar; 6:129625040-129625210 CMRI:11_pbsv.DEL.2956_duplicate1; chr6:129625230-129625342 dbVar; chr6:129625331-129625475 HPRC:pbsv.DEL.8317; chr6:129625389-129625411 HPRC:pbsv.DEL.8318; chr6:129625806-129625870 HPRC:pbsv.DEL.8323; chr6:129643626-129643805 dbVar; chr6:129652643-129652712 dbVar; chr6:129717997-129718255 dbVar; chr6:129791422-129791530 dbVar; chr6:129832758-129838328 dbVar; chr6:129853438-129853502 dbVar; chr6:129881391-129882323 dbVar; chr6:129902784-129902900 dbVar; chr6:129991746-129992522 dbVar... |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:129457399-129457583; 6:129457605-129457686; 6:129457687-129458053 Repeat_type_left : MIRb; MIR; MLT1A0 Gap_left : . GC_content_left : 0.270 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:136456863-136459916 Repeat_type_right : L1MB1 Gap_right : . GC_content_right : 0.315 |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
ENPP1Gene_name : ENPP1; LOEUF_bin : 3 GnomAD_pLI : 4.9944e-08 ExAC_pLI : 2.3099e-05 HI : 30 TS : 0 DDD_HI_percent : 20.17 ACMG : . ExAC_cnvZ : -0.386980979457318 ExAC_delZ : -1.22625459266465 ExAC_dupZ : 0.089622226804733 ExAC_synZ : -0.585880884473098 ExAC_misZ : 0.652538185099446 GenCC_disease : arterial calcification of infancy; arterial calcification, generalized, of infancy, 1; autosomal recessive hypophosphatemic rickets; autosomal recessive inherited pseudoxanthoma elasticum; hypophosphatemic rickets, autosomal recessive, 2; hypopigmentation-punctate palmoplantar keratoderma syndrome GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 11159191; 12881724; 15605415; 15940697; 16369898; 19206175; 20016754; 20137772; 20137773; 21745613; 22209248; 22539483; 24075184; 24075184[PMID]; 253403; 25392903[PMID]; 25615550[PMID]; 25741938; 26617416; 28964717; 35482848; NULL NCBI_gene_ID : 5167 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_006208 Tx_version : 3 Tx_start : 131808019 Tx_end : 131895155 Exon_count : 25 Overlapped_tx_length : 87136 Overlapped_CDS_length : 2778 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131808019 Intersect_end : 131895155 |
173335; OMIM_ID : 173335; OMIM_phenotype : Arterial calcification, generalized, of infancy, 1, 208000 (3) AR; Cole disease, 615522 (3) AD; Hypophosphatemic rickets, AR, 2, 613312 (3) AR; (Diabetes mellitus, non-insulin-dependent, susceptibility to), 125853 (3) AD; (Obesity, susceptibility to), 601665 (3) AR,Multifactorial,AD; OMIM_inheritance : AD; AR; AR,Multifactorial,AD OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.8525Exomiser_gene_pheno_score : 0.8525 Human_pheno_evidence : Autosomal recessive hypophosphatemic rickets; Craniosynostosis Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal hand joint morphology; abnormal nucleus pulposus morphology Fish_pheno_evidence : Craniosynostosis; ceratohyal cartilage premature perichondral ossification, abnormal |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Craniosynostosis PhenoGenius_score : 0.23 |
.RE_gene : . |
6:131808020-131895155; 6:131885763-131891378;[...]P_loss_coord : 6:131808020-131895155; 6:131885763-131891378; 6:131885764-131891377 P_loss_source : CLN:28632; dbVar:nssv15120194; morbid:ENPP1 P_loss_phen : Arterial calcification, generalized, of infancy, 1, 208000 (3) AR; Cole disease, 615522 (3) AD; Hypophosphatemic rickets, AR, 2, 613312 (3) AR; Diabetes mellitus, non-insulin-dependent, susceptibility to, 125853 (3) AD; Obesity, susceptibility to, 601665 (3) AR,Multifactorial,AD; Hypophosphatemic_rickets,_autosomal_recessive,_2 P_loss_hpo : . |
33P_snvindel_nb : 33 P_snvindel_phen : Arterial_calcification,_generalized,_of_infancy,_1; Coronary_sclerosis,_medial,_of_infancy; ENPP1-Related_Disorders; Hypophosphatemic_rickets,_autosomal_recessive,_2; Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome; Obesity; Type_2_diabetes_mellitus |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
AHI1Gene_name : AHI1; LOEUF_bin : 5 GnomAD_pLI : 1.0773e-25 ExAC_pLI : 3.2566e-14 HI : 30 TS : 0 DDD_HI_percent : 32.57 ACMG : . ExAC_cnvZ : -0.166948525080606 ExAC_delZ : -0.952766813341356 ExAC_dupZ : 0.339694042772834 ExAC_synZ : -2.15454364260372 ExAC_misZ : -1.62807685007529 GenCC_disease : Joubert syndrome; Joubert syndrome 17; Joubert syndrome 3; Joubert syndrome with ocular defect; retinitis pigmentosa GenCC_moi : AD; AR GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 15322546; 15467982; 16155189; 16240161; 16453322; 18054307; 20615230[PMID]_20301500[PMID]; 21937992; 22693042[PMID]; 23532844; 25356976; 25616960; 28442540[PMID]; 28442542 NCBI_gene_ID : 54806 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001134830 Tx_version : 2 Tx_start : 135283531 Tx_end : 135497740 Exon_count : 27 Overlapped_tx_length : 214209 Overlapped_CDS_length : 3591 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135283531 Intersect_end : 135497740 |
0.6248Exomiser_gene_pheno_score : 0.6248 Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Foot polydactyly; Joubert syndrome with ocular defect Mouse_pheno_evidence : Craniosynostosis; abnormal retina apoptosis Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.17 |
.RE_gene : . |
6:135358113-135358207; 6:135358113-135433276;[...]P_loss_coord : 6:135358113-135358207; 6:135358113-135433276; 6:135389556-135414641; 6:135390348-135414641; 6:135394756-135411564; 6:135394757-135411564; 6:135400147-135409846; 6:135427205-135497740; 6:135428610-135463326; 6:135428624-135463312; 6:135429863-135433276; 6:135429883-135433256; 6:135433258-135442581; 6:135437870-135441094; 6:135448291-135448475; 6:135457584-135465286 P_loss_source : dbVar:nssv15130008; dbVar:nssv15149459; dbVar:nssv15153018; dbVar:nssv15154202; dbVar:nssv15772892; nssv15776067; dbVar:nssv15772897; nssv17970152; dbVar:nssv15774884; nssv15776636; dbVar:nssv16213368; dbVar:nssv16866445; dbVar:nssv17171381; dbVar:nssv17171560; dbVar:nssv17649878; dbVar:nssv18786341; dbVar:nssv18786863; dbVar:nssv18786865; morbid:AHI1 P_loss_phen : Joubert syndrome 3, 608629 (3) AR P_loss_hpo : . |
137P_snvindel_nb : 137 P_snvindel_phen : AHI1-related_condition; Familial_aplasia_of_the_vermis; Global_developmental_delay; Inborn_genetic_diseases; Joubert_syndrome_1; Joubert_syndrome_3; Joubert_syndrome_and_related_disorders; Joubert_syndrome_with_ocular_defect; Leber_congenital_amaurosis; Nephronophthisis; Retinal_dystrophy; Retinitis_pigmentosa; Rod-cone_dystrophy; See_cases; Typical_Joubert_syndrome_MRI_findings |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
MYBGene_name : MYB; LOEUF_bin : 1 GnomAD_pLI : 8.1924e-01 ExAC_pLI : 8.8185e-01 HI : . TS : . DDD_HI_percent : 1.04 ACMG : . ExAC_cnvZ : 0.788202289069363 ExAC_delZ : 0.389559790115154 ExAC_dupZ : 0.801973517806529 ExAC_synZ : 0.285638037488361 ExAC_misZ : 2.17018457637622 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 4602 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001130173 Tx_version : 2 Tx_start : 135181307 Tx_end : 135219172 Exon_count : 16 Overlapped_tx_length : 37865 Overlapped_CDS_length : 2286 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135181307 Intersect_end : 135219172 |
0.8056Exomiser_gene_pheno_score : 0.8056 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; anophthalmia; polydactyly Fish_pheno_evidence : Craniosynostosis; ossification involved in bone maturation arrested, abnormal |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LAMA2Gene_name : LAMA2; LOEUF_bin : 3 GnomAD_pLI : 2.4118e-47 ExAC_pLI : 1.1847e-24 HI : 30 TS : 0 DDD_HI_percent : 4.68 ACMG : . ExAC_cnvZ : -0.85118677989896 ExAC_delZ : -1.21481296794411 ExAC_dupZ : -0.902807556587679 ExAC_synZ : -0.499311090421406 ExAC_misZ : -1.19434974589271 GenCC_disease : LAMA2-related muscular dystrophy; congenital merosin-deficient muscular dystrophy 1A; muscular dystrophy, limb-girdle, autosomal recessive 23 GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 11071490; 11591858; 11938437; 12552556; 12601554; 16216942; 18700894; 20207543; 22675738; 24223650[PMID]_22675738[PMID]; 32904964; 7550355; 9158149 NCBI_gene_ID : 3908 |
intron48-txEndLocation : intron48-txEnd CytoBand : q22.33 Location2 : CDS-3'UTR Tx : NM_000426 Tx_version : 4 Tx_start : 128883137 Tx_end : 129516566 Exon_count : 65 Overlapped_tx_length : 58908 Overlapped_CDS_length : 2502 Overlapped_CDS_percent : 26 Frameshift : no Dist_nearest_SS : 1164 Nearest_SS_type : 5' Intersect_start : 129457658 Intersect_end : 129516566 |
0.6107Exomiser_gene_pheno_score : 0.6107 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased cranium width Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
6:129464281-129481449; 6:129484762-129489748;[...]P_loss_coord : 6:129464281-129481449; 6:129484762-129489748; 6:129486455-129486642; 6:129486465-129486632; 6:129486475-129486622; 6:129502640-129514615; 6:129505191-129505365; 6:129516171-129516367; 6:129516181-129516357 P_loss_source : dbVar:nssv15129201; dbVar:nssv15129242; dbVar:nssv15129438; dbVar:nssv15146071; dbVar:nssv16213810; dbVar:nssv17171763; dbVar:nssv17172533; dbVar:nssv17974155; dbVar:nssv18789162 P_loss_phen : . P_loss_hpo : . |
119P_snvindel_nb : 119 P_snvindel_phen : Abnormality_of_the_musculature; Congenital_Muscular_Dystrophy,_LAMA2-related; Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency; Elevated_circulating_creatine_kinase_concentration; Exercise-induced_myalgia; Inborn_genetic_diseases; LAMA2-related_disorders; LAMA2-related_muscular_dystrophy; Merosin_deficient_congenital_muscular_dystrophy; Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23; Myalgia |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
EYA4Gene_name : EYA4; LOEUF_bin : 2 GnomAD_pLI : 4.8720e-02 ExAC_pLI : 1.2643e-01 HI : 3 TS : 0 DDD_HI_percent : 3.86 ACMG : . ExAC_cnvZ : 0.661381116505353 ExAC_delZ : 0.106110501658047 ExAC_dupZ : 0.890913886813156 ExAC_synZ : 0.258592172400034 ExAC_misZ : 0.724936428068574 GenCC_disease : autosomal dominant nonsyndromic hearing loss; autosomal dominant nonsyndromic hearing loss 10; dilated cardiomyopathy 1J; nonsyndromic genetic hearing loss GenCC_moi : AD GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 11159937; 15735644; 15735644[PMID]; 17567890; 17568404; 18219393; 20301607; 20301607[PMID]_24148127[PMID]; 22938506; 24123792; 25242383; 25681523; 25781927; 25963406; 26015337; 26331839; 27545760; 32107406 NCBI_gene_ID : 2070 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : XM_017010368 Tx_version : 3 Tx_start : 133240592 Tx_end : 133532128 Exon_count : 20 Overlapped_tx_length : 291536 Overlapped_CDS_length : 1965 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133240592 Intersect_end : 133532128 |
0.3304Exomiser_gene_pheno_score : 0.3304 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal palate bone morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
6:133240594-133532128; 6:133241357-133532128;[...]P_loss_coord : 6:133240594-133532128; 6:133241357-133532128; 6:133461095-133462784; 6:133462765-133464858; 6:133462765-133467609; 6:133506021-133528840; 6:133525016-133528805 P_loss_source : HI3:EYA4; dbVar:nssv15123008; dbVar:nssv15771048; dbVar:nssv16214266; dbVar:nssv17976660; dbVar:nssv18789740; morbid:EYA4 P_loss_phen : ?Cardiomyopathy, dilated, 1J, 605362 (3) AD; Deafness, AD 10, 601316 (3) AD P_loss_hpo : . |
25P_snvindel_nb : 25 P_snvindel_phen : Autosomal_dominant_nonsyndromic_hearing_loss_10; Dilated_cardiomyopathy_1J; EYA4-related_condition; Inborn_genetic_diseases; Nonsyndromic_genetic_hearing_loss |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
L3MBTL3Gene_name : L3MBTL3; LOEUF_bin : 1 GnomAD_pLI : 9.9744e-01 ExAC_pLI : 9.9950e-01 HI : . TS : . DDD_HI_percent : 25.7 ACMG : . ExAC_cnvZ : 0.0766558272849751 ExAC_delZ : 0.697086775887013 ExAC_dupZ : -0.279770767108891 ExAC_synZ : 0.087802907489915 ExAC_misZ : 0.671548616177629 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84456 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : XM_006715576 Tx_version : 4 Tx_start : 130018580 Tx_end : 130141438 Exon_count : 23 Overlapped_tx_length : 122858 Overlapped_CDS_length : 2448 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130018580 Intersect_end : 130141438 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.7941Exomiser_gene_pheno_score : 0.7941 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; polydactyly Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_014739 Tx_version : 3 Tx_start : 136256626 Tx_end : 136289846 Exon_count : 13 Overlapped_tx_length : 33220 Overlapped_CDS_length : 2763 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 136256626 Intersect_end : 136289846 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.7941Exomiser_gene_pheno_score : 0.7941 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; polydactyly Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96 B_loss_coord : chr6:135876891-160100724 B_loss_AFmax : 0.9040 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
MED23Gene_name : MED23; LOEUF_bin : 2 GnomAD_pLI : 3.1015e-08 ExAC_pLI : 1.5066e-01 HI : . TS : . DDD_HI_percent : 6.53 ACMG : . ExAC_cnvZ : -0.373876400220749 ExAC_delZ : -0.664848636826207 ExAC_dupZ : -0.276776362124493 ExAC_synZ : -0.149210728755433 ExAC_misZ : 4.68045517089823 GenCC_disease : autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 18; syndromic intellectual disability GenCC_moi : AR GenCC_classification : Limited; Moderate; Strong; Supportive GenCC_pmid : 21868677; 21868677[PMID]; 25845469; 27311965; 27457812; 30847200 NCBI_gene_ID : 9439 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001376517 Tx_version : 1 Tx_start : 131586754 Tx_end : 131628242 Exon_count : 30 Overlapped_tx_length : 41488 Overlapped_CDS_length : 4125 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131586754 Intersect_end : 131628242 |
0.3308Exomiser_gene_pheno_score : 0.3308 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral content Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
6:131598715-131628242P_loss_coord : 6:131598715-131628242 P_loss_source : morbid:MED23 P_loss_phen : Intellectual developmental disorder, AR 18, with or without epilepsy, 614249 (3) AR P_loss_hpo : . |
6P_snvindel_nb : 6 P_snvindel_phen : Inborn_genetic_diseases; Intellectual_disability,_autosomal_recessive_18 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001901 Tx_version : 4 Tx_start : 131948175 Tx_end : 131951372 Exon_count : 5 Overlapped_tx_length : 3197 Overlapped_CDS_length : 1050 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131948175 Intersect_end : 131951372 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6565Exomiser_gene_pheno_score : 0.6565 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal bone ossification; abnormal sternum morphology Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
HBS1LGene_name : HBS1L; LOEUF_bin : 3 GnomAD_pLI : 1.8606e-07 ExAC_pLI : 9.2452e-01 HI : . TS : . DDD_HI_percent : 18.25 ACMG : . ExAC_cnvZ : 0.632849347076456 ExAC_delZ : 0.49403256764397 ExAC_dupZ : 0.537115607285543 ExAC_synZ : 1.00465512219928 ExAC_misZ : 0.0825227190642893 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10767 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_006620 Tx_version : 4 Tx_start : 134960377 Tx_end : 135054822 Exon_count : 18 Overlapped_tx_length : 94445 Overlapped_CDS_length : 2055 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134960377 Intersect_end : 135054822 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4535Exomiser_gene_pheno_score : 0.4535 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal cranium morphology; abnormal tail morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
TCF21Gene_name : TCF21; LOEUF_bin : 2 GnomAD_pLI : 8.2553e-01 ExAC_pLI : 8.0537e-01 HI : . TS : . DDD_HI_percent : 7.41 ACMG : . ExAC_cnvZ : 0.837221682663089 ExAC_delZ : 0.387680106608303 ExAC_dupZ : 0.744334725353376 ExAC_synZ : 2.28759818130434 ExAC_misZ : 1.88044568553803 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6943 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_198392 Tx_version : 3 Tx_start : 133889112 Tx_end : 133895537 Exon_count : 3 Overlapped_tx_length : 6425 Overlapped_CDS_length : 540 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133889112 Intersect_end : 133895537 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4180Exomiser_gene_pheno_score : 0.4180 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
AKAP7Gene_name : AKAP7; LOEUF_bin : 6 GnomAD_pLI : 2.8942e-07 ExAC_pLI : 1.5988e-03 HI : . TS : . DDD_HI_percent : 52.79 ACMG : . ExAC_cnvZ : 0.417109671607168 ExAC_delZ : 0.826020682988162 ExAC_dupZ : 0.0584299784693874 ExAC_synZ : 0.281076723285336 ExAC_misZ : -1.49388894123245 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9465 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : XM_017011506 Tx_version : 2 Tx_start : 131135466 Tx_end : 131237552 Exon_count : 8 Overlapped_tx_length : 102086 Overlapped_CDS_length : 1152 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131135466 Intersect_end : 131237552 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4187Exomiser_gene_pheno_score : 0.4187 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral density Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
ARG1Gene_name : ARG1; LOEUF_bin : 5 GnomAD_pLI : 3.5944e-04 ExAC_pLI : 4.9988e-04 HI : 30 TS : 0 DDD_HI_percent : 33.51 ACMG : . ExAC_cnvZ : -0.870890780703319 ExAC_delZ : -1.08786680767181 ExAC_dupZ : -0.705329878519116 ExAC_synZ : -0.463912096357438 ExAC_misZ : -0.493582858578367 GenCC_disease : hyperargininemia GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 10502833; 12052859; 1463019; 1598908; 20301338[PMID]; 2365823; 27570396; 7649538 NCBI_gene_ID : 383 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001244438 Tx_version : 2 Tx_start : 131573225 Tx_end : 131584329 Exon_count : 8 Overlapped_tx_length : 11104 Overlapped_CDS_length : 993 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131573225 Intersect_end : 131584329 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.01 |
.RE_gene : . |
6:131573226-131584329; 6:131576654-131583918;[...]P_loss_coord : 6:131573226-131584329; 6:131576654-131583918; 6:131579078-131581388; 6:131582441-131582677 P_loss_source : dbVar:nssv15770692; dbVar:nssv17968989; dbVar:nssv18791029; morbid:ARG1 P_loss_phen : Argininemia, 207800 (3) AR P_loss_hpo : . |
61P_snvindel_nb : 61 P_snvindel_phen : Arginase_deficiency; Inborn_genetic_diseases |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
TAAR8Gene_name : TAAR8; LOEUF_bin : 8 GnomAD_pLI : 2.8158e-04 ExAC_pLI : 3.0311e-04 HI : . TS : . DDD_HI_percent : 81.11 ACMG : . ExAC_cnvZ : 0.83819790782893 ExAC_delZ : 0.886576338035517 ExAC_dupZ : 0.660266605041426 ExAC_synZ : -0.825719456118495 ExAC_misZ : -1.11505413010578 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 83551 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_053278 Tx_version : 3 Tx_start : 132552671 Tx_end : 132553756 Exon_count : 1 Overlapped_tx_length : 1085 Overlapped_CDS_length : 1029 Overlapped_CDS_percent : 96 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132552671 Intersect_end : 132553756 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.4007Exomiser_gene_pheno_score : 0.4007 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
TAAR6Gene_name : TAAR6; LOEUF_bin : 5 GnomAD_pLI : 1.6668e-02 ExAC_pLI : 1.5313e-01 HI : . TS : . DDD_HI_percent : 69.58 ACMG : . ExAC_cnvZ : 0.460756206998486 ExAC_delZ : 0.466867349257878 ExAC_dupZ : 0.356609734759306 ExAC_synZ : -1.86171269807786 ExAC_misZ : -2.33958652256987 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 319100 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_175067 Tx_version : 1 Tx_start : 132570321 Tx_end : 132571359 Exon_count : 1 Overlapped_tx_length : 1038 Overlapped_CDS_length : 1038 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132570321 Intersect_end : 132571359 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3308Exomiser_gene_pheno_score : 0.3308 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
PDE7BGene_name : PDE7B; LOEUF_bin : 1 GnomAD_pLI : 5.4578e-01 ExAC_pLI : 9.4645e-01 HI : . TS : . DDD_HI_percent : 19.84 ACMG : . ExAC_cnvZ : 1.0237200325896 ExAC_delZ : 0.920371553191268 ExAC_dupZ : 0.752820117543276 ExAC_synZ : -0.0535276956213167 ExAC_misZ : 1.1169303700937 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 27115 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_018945 Tx_version : 4 Tx_start : 135851700 Tx_end : 136195574 Exon_count : 13 Overlapped_tx_length : 343874 Overlapped_CDS_length : 1353 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135851700 Intersect_end : 136195574 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
MAP7Gene_name : MAP7; LOEUF_bin : 1 GnomAD_pLI : 4.2439e-01 ExAC_pLI : 9.2988e-01 HI : . TS : . DDD_HI_percent : 48.78 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.0140117831780703 ExAC_misZ : 0.200580568159824 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9053 |
intron1-txEndLocation : intron1-txEnd CytoBand : q23.3 Location2 : CDS-3'UTR Tx : XM_011536243 Tx_version : 3 Tx_start : 136342733 Tx_end : 136466878 Exon_count : 18 Overlapped_tx_length : 114926 Overlapped_CDS_length : 2207 Overlapped_CDS_percent : 99 Frameshift : yes Dist_nearest_SS : 9101 Nearest_SS_type : 5' Intersect_start : 136342733 Intersect_end : 136457659 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96 B_loss_coord : chr6:135876891-160100724 B_loss_AFmax : 0.9040 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
EPB41L2Gene_name : EPB41L2; LOEUF_bin : 1 GnomAD_pLI : 9.9318e-01 ExAC_pLI : 9.9388e-01 HI : . TS : . DDD_HI_percent : 29.86 ACMG : . ExAC_cnvZ : -0.346140492847593 ExAC_delZ : -0.0325396495173831 ExAC_dupZ : -0.551099193788389 ExAC_synZ : -1.10248132942072 ExAC_misZ : -0.32203632671508 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 2037 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1-q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001350299 Tx_version : 2 Tx_start : 130839346 Tx_end : 130970339 Exon_count : 22 Overlapped_tx_length : 130993 Overlapped_CDS_length : 3174 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130839346 Intersect_end : 130970339 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
TMEM200AGene_name : TMEM200A; LOEUF_bin : 2 GnomAD_pLI : 8.5062e-01 ExAC_pLI : 8.3525e-01 HI : . TS : . DDD_HI_percent : 45.72 ACMG : . ExAC_cnvZ : -0.0585477678076354 ExAC_delZ : 0.229942616922398 ExAC_dupZ : -0.271940736003974 ExAC_synZ : -0.275595144932252 ExAC_misZ : -0.0316906107459739 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 114801 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : XM_005266816 Tx_version : 4 Tx_start : 130365530 Tx_end : 130443067 Exon_count : 5 Overlapped_tx_length : 77537 Overlapped_CDS_length : 1476 Overlapped_CDS_percent : 55 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130365530 Intersect_end : 130443067 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
RPS12Gene_name : RPS12; LOEUF_bin : 2 GnomAD_pLI : 8.8531e-01 ExAC_pLI : 8.2744e-01 HI : . TS : . DDD_HI_percent : 12.73 ACMG : . ExAC_cnvZ : -0.264102676019071 ExAC_delZ : -0.298576454957788 ExAC_dupZ : -0.247123086875932 ExAC_synZ : -0.888922467234722 ExAC_misZ : 0.543218521003271 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6183 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001016 Tx_version : 4 Tx_start : 132814568 Tx_end : 132817564 Exon_count : 6 Overlapped_tx_length : 2996 Overlapped_CDS_length : 399 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132814568 Intersect_end : 132817564 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
SGK1Gene_name : SGK1; LOEUF_bin : 2 GnomAD_pLI : 2.3046e-03 ExAC_pLI : 9.8645e-01 HI : . TS : . DDD_HI_percent : 3.54 ACMG : . ExAC_cnvZ : 0.462160096776201 ExAC_delZ : 0.075058156692747 ExAC_dupZ : 0.582437825851999 ExAC_synZ : 0.334902940000469 ExAC_misZ : 1.13059005265298 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6446 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001143676 Tx_version : 3 Tx_start : 134169255 Tx_end : 134318112 Exon_count : 14 Overlapped_tx_length : 148857 Overlapped_CDS_length : 1581 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134169255 Intersect_end : 134318112 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
TBPL1Gene_name : TBPL1; LOEUF_bin : 3 GnomAD_pLI : 3.7902e-01 ExAC_pLI : 8.7962e-01 HI : . TS : . DDD_HI_percent : 4.15 ACMG : . ExAC_cnvZ : 0.692044299017714 ExAC_delZ : 0.0385751670255677 ExAC_dupZ : 0.849854217031147 ExAC_synZ : 0.784635765398517 ExAC_misZ : 2.24883010499313 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9519 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001253676 Tx_version : 2 Tx_start : 133952173 Tx_end : 133990432 Exon_count : 7 Overlapped_tx_length : 38259 Overlapped_CDS_length : 561 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133952173 Intersect_end : 133990432 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
ARHGAP18Gene_name : ARHGAP18; LOEUF_bin : 4 GnomAD_pLI : 8.4436e-12 ExAC_pLI : 2.4596e-06 HI : . TS : . DDD_HI_percent : 40.56 ACMG : . ExAC_cnvZ : -0.625145281701932 ExAC_delZ : -0.824711572758474 ExAC_dupZ : -0.507783319021181 ExAC_synZ : -0.521009633306749 ExAC_misZ : 0.146339065926012 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 93663 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22.33 Location2 : 5'UTR-3'UTR Tx : NM_033515 Tx_version : 3 Tx_start : 129576131 Tx_end : 129710177 Exon_count : 15 Overlapped_tx_length : 134046 Overlapped_CDS_length : 1992 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129576131 Intersect_end : 129710177 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
SLC2A12Gene_name : SLC2A12; LOEUF_bin : 4 GnomAD_pLI : 5.5510e-05 ExAC_pLI : 1.9408e-02 HI : . TS : . DDD_HI_percent : 53.14 ACMG : . ExAC_cnvZ : 0.178662715986944 ExAC_delZ : -0.413772362470663 ExAC_dupZ : 0.485371437899009 ExAC_synZ : -1.48171659289294 ExAC_misZ : -0.0412340612756398 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 154091 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_145176 Tx_version : 3 Tx_start : 133987580 Tx_end : 134052624 Exon_count : 5 Overlapped_tx_length : 65044 Overlapped_CDS_length : 1854 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133987580 Intersect_end : 134052624 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
STX7Gene_name : STX7; LOEUF_bin : 5 GnomAD_pLI : 5.0273e-06 ExAC_pLI : 4.2631e-03 HI : . TS : . DDD_HI_percent : 21.5 ACMG : . ExAC_cnvZ : 0.936704716543205 ExAC_delZ : 0.809786329345821 ExAC_dupZ : 0.684467618519702 ExAC_synZ : -0.763908423019128 ExAC_misZ : -0.116690447542069 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8417 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001326579 Tx_version : 2 Tx_start : 132445866 Tx_end : 132513472 Exon_count : 10 Overlapped_tx_length : 67606 Overlapped_CDS_length : 786 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132445866 Intersect_end : 132513472 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
VNN1Gene_name : VNN1; LOEUF_bin : 5 GnomAD_pLI : 4.3868e-06 ExAC_pLI : 2.3547e-07 HI : . TS : . DDD_HI_percent : 71.36 ACMG : . ExAC_cnvZ : -0.764628327928276 ExAC_delZ : -0.733276063689322 ExAC_dupZ : -0.736854355550154 ExAC_synZ : -0.352951946736433 ExAC_misZ : -1.69133645586155 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8876 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_004666 Tx_version : 3 Tx_start : 132680848 Tx_end : 132714055 Exon_count : 7 Overlapped_tx_length : 33207 Overlapped_CDS_length : 1542 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132680848 Intersect_end : 132714055 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
ENPP3Gene_name : ENPP3; LOEUF_bin : 5 GnomAD_pLI : 3.4680e-23 ExAC_pLI : 6.4375e-17 HI : . TS : . DDD_HI_percent : 58.41 ACMG : . ExAC_cnvZ : -0.322670411819043 ExAC_delZ : -0.0211344272593469 ExAC_dupZ : -0.525795120387414 ExAC_synZ : -0.722340985551073 ExAC_misZ : -0.947656338398151 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5169 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_005021 Tx_version : 5 Tx_start : 131637301 Tx_end : 131747410 Exon_count : 25 Overlapped_tx_length : 110109 Overlapped_CDS_length : 2628 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131637301 Intersect_end : 131747410 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
MTFR2Gene_name : MTFR2; LOEUF_bin : 6 GnomAD_pLI : 2.6584e-06 ExAC_pLI : 1.5154e-04 HI : . TS : . DDD_HI_percent : 76.82 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.0239255362145256 ExAC_misZ : -0.698332222854525 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 113115 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_001099286 Tx_version : 3 Tx_start : 136231033 Tx_end : 136250311 Exon_count : 8 Overlapped_tx_length : 19278 Overlapped_CDS_length : 1158 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 136231033 Intersect_end : 136250311 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96 B_loss_coord : chr6:135876891-160100724 B_loss_AFmax : 0.9040 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
TMEM244Gene_name : TMEM244; LOEUF_bin : 6 GnomAD_pLI : 1.0646e-02 ExAC_pLI : 3.7088e-02 HI : . TS : . DDD_HI_percent : 66.6 ACMG : . ExAC_cnvZ : -0.204856797253081 ExAC_delZ : 0.777843304532889 ExAC_dupZ : -0.660423882826055 ExAC_synZ : -0.357230783334687 ExAC_misZ : -1.27221182379969 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 253582 |
txStart-txEndLocation : txStart-txEnd CytoBand : q22.33 Location2 : 5'UTR-3'UTR Tx : NM_001010876 Tx_version : 2 Tx_start : 129831243 Tx_end : 129861315 Exon_count : 5 Overlapped_tx_length : 30072 Overlapped_CDS_length : 387 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129831243 Intersect_end : 129861315 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
SAMD3Gene_name : SAMD3; LOEUF_bin : 6 GnomAD_pLI : 1.5324e-15 ExAC_pLI : 1.0971e-06 HI : . TS : . DDD_HI_percent : 49.83 ACMG : . ExAC_cnvZ : -0.4781191791724 ExAC_delZ : 0.671935105132299 ExAC_dupZ : -0.93532638725869 ExAC_synZ : -2.02784001352573 ExAC_misZ : -1.5293968173127 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 154075 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001277185 Tx_version : 2 Tx_start : 130144314 Tx_end : 130215887 Exon_count : 11 Overlapped_tx_length : 71573 Overlapped_CDS_length : 1635 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130144314 Intersect_end : 130215887 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
MOXD1Gene_name : MOXD1; LOEUF_bin : 7 GnomAD_pLI : 1.5505e-22 ExAC_pLI : 8.9912e-11 HI : . TS : . DDD_HI_percent : 49.43 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.313619681763931 ExAC_misZ : -1.65498209142755 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26002 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_015529 Tx_version : 4 Tx_start : 132296054 Tx_end : 132401475 Exon_count : 12 Overlapped_tx_length : 105421 Overlapped_CDS_length : 1842 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132296054 Intersect_end : 132401475 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
TAAR1Gene_name : TAAR1; LOEUF_bin : 7 GnomAD_pLI : 3.9183e-04 ExAC_pLI : 2.8370e-04 HI : . TS : . DDD_HI_percent : 54.25 ACMG : . ExAC_cnvZ : 0.0321131024079369 ExAC_delZ : 0.551502065069197 ExAC_dupZ : -0.301464636648797 ExAC_synZ : -0.808780619125819 ExAC_misZ : -2.12022542190972 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 134864 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_138327 Tx_version : 4 Tx_start : 132643311 Tx_end : 132659182 Exon_count : 2 Overlapped_tx_length : 15871 Overlapped_CDS_length : 1020 Overlapped_CDS_percent : 89 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132643311 Intersect_end : 132659182 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
ALDH8A1Gene_name : ALDH8A1; LOEUF_bin : 7 GnomAD_pLI : 2.4846e-12 ExAC_pLI : 9.4563e-06 HI : . TS : . DDD_HI_percent : 50.43 ACMG : . ExAC_cnvZ : 0.636244288364203 ExAC_delZ : -0.0479421615135615 ExAC_dupZ : 0.83784463453695 ExAC_synZ : 0.292252078311897 ExAC_misZ : -0.0725018541591562 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64577 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : 5'UTR-3'UTR Tx : NM_022568 Tx_version : 4 Tx_start : 134917392 Tx_end : 134950101 Exon_count : 7 Overlapped_tx_length : 32709 Overlapped_CDS_length : 1464 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134917392 Intersect_end : 134950101 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
VNN2Gene_name : VNN2; LOEUF_bin : 8 GnomAD_pLI : 4.4480e-15 ExAC_pLI : 1.0189e-08 HI : . TS : . DDD_HI_percent : 85.31 ACMG : . ExAC_cnvZ : -1.10275366326849 ExAC_delZ : -1.38581098169326 ExAC_dupZ : -0.910242646424276 ExAC_synZ : -0.771514508408535 ExAC_misZ : -1.33267730788279 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 8875 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : XM_047419477 Tx_version : 1 Tx_start : 132743869 Tx_end : 132763455 Exon_count : 8 Overlapped_tx_length : 19586 Overlapped_CDS_length : 1563 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132743869 Intersect_end : 132763455 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : 5'UTR-3'UTR Tx : NM_001195597 Tx_version : 2 Tx_start : 130827405 Tx_end : 130837135 Exon_count : 2 Overlapped_tx_length : 9730 Overlapped_CDS_length : 324 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130827405 Intersect_end : 130837135 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
SLC18B1Gene_name : SLC18B1; LOEUF_bin : 8 GnomAD_pLI : 1.0193e-17 ExAC_pLI : 3.9468e-10 HI : . TS : . DDD_HI_percent : 63.25 ACMG : . ExAC_cnvZ : -1.25729920171256 ExAC_delZ : -0.440884256599318 ExAC_dupZ : -1.69012769918885 ExAC_synZ : -0.0787109341829023 ExAC_misZ : -1.98332206754653 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 116843 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_052831 Tx_version : 3 Tx_start : 132769369 Tx_end : 132798637 Exon_count : 14 Overlapped_tx_length : 29268 Overlapped_CDS_length : 1371 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132769369 Intersect_end : 132798637 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
TAAR2Gene_name : TAAR2; LOEUF_bin : 9 GnomAD_pLI : 7.6400e-11 ExAC_pLI : 3.4145e-06 HI : . TS : . DDD_HI_percent : 41.15 ACMG : . ExAC_cnvZ : -0.110433348654116 ExAC_delZ : 0.329516829397542 ExAC_dupZ : -0.385684634463548 ExAC_synZ : -1.60330869498279 ExAC_misZ : -2.3671062869474 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9287 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001033080 Tx_version : 1 Tx_start : 132617149 Tx_end : 132624275 Exon_count : 2 Overlapped_tx_length : 7126 Overlapped_CDS_length : 1056 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132617149 Intersect_end : 132624275 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
TAAR5Gene_name : TAAR5; LOEUF_bin : 9 GnomAD_pLI : 6.2057e-11 ExAC_pLI : 3.4575e-07 HI : . TS : . DDD_HI_percent : 67.24 ACMG : . ExAC_cnvZ : -0.000125768613592575 ExAC_delZ : 0.220394878714205 ExAC_dupZ : -0.189312837451224 ExAC_synZ : -0.407432077880692 ExAC_misZ : -1.90724354676952 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9038 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001389527 Tx_version : 1 Tx_start : 132588591 Tx_end : 132616747 Exon_count : 4 Overlapped_tx_length : 28156 Overlapped_CDS_length : 1014 Overlapped_CDS_percent : 95 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132588591 Intersect_end : 132616747 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
OR2A4Gene_name : OR2A4; LOEUF_bin : 9 GnomAD_pLI : 1.1869e-01 ExAC_pLI : 6.8483e-01 HI : . TS : . DDD_HI_percent : 90.09 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 3.32467390756765 ExAC_misZ : 3.81661437455078 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79541 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_030908 Tx_version : 2 Tx_start : 131699643 Tx_end : 131701401 Exon_count : 1 Overlapped_tx_length : 1758 Overlapped_CDS_length : 933 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131699643 Intersect_end : 131701401 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LINC02524Gene_name : LINC02524; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105378013 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_183501 Tx_version : 1 Tx_start : 135628786 Tx_end : 135634681 Exon_count : 3 Overlapped_tx_length : 5895 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135628786 Intersect_end : 135634681 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr6:135519297-135721567 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_173391 Tx_version : 1 Tx_start : 132722786 Tx_end : 132734765 Exon_count : 7 Overlapped_tx_length : 11979 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132722786 Intersect_end : 132734765 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_002435 Tx_version : 1 Tx_start : 132816801 Tx_end : 132816877 Exon_count : 1 Overlapped_tx_length : 76 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132816801 Intersect_end : 132816877 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_175057 Tx_version : 4 Tx_start : 132538276 Tx_end : 132539336 Exon_count : 1 Overlapped_tx_length : 1060 Overlapped_CDS_length : 1047 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132538276 Intersect_end : 132539336 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_109982 Tx_version : 1 Tx_start : 133502251 Tx_end : 133889006 Exon_count : 9 Overlapped_tx_length : 386755 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133502251 Intersect_end : 133889006 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
6:133506021-133528840; 6:133525016-133528805P_loss_coord : 6:133506021-133528840; 6:133525016-133528805 P_loss_source : dbVar:nssv15771048; dbVar:nssv16214266 P_loss_phen : . P_loss_hpo : . |
9P_snvindel_nb : 9 P_snvindel_phen : Autosomal_dominant_nonsyndromic_hearing_loss_10; Dilated_cardiomyopathy_1J; EYA4-related_condition |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LINC00326Gene_name : LINC00326; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 285735 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_026969 Tx_version : 1 Tx_start : 133088079 Tx_end : 133106578 Exon_count : 4 Overlapped_tx_length : 18499 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133088079 Intersect_end : 133106578 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr6:133087841-133108747 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_152842 Tx_version : 1 Tx_start : 135497800 Tx_end : 135716055 Exon_count : 6 Overlapped_tx_length : 218255 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135497800 Intersect_end : 135716055 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_002434 Tx_version : 1 Tx_start : 132815306 Tx_end : 132815379 Exon_count : 1 Overlapped_tx_length : 73 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132815306 Intersect_end : 132815379 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001145659 Tx_version : 1 Tx_start : 131708440 Tx_end : 131711017 Exon_count : 1 Overlapped_tx_length : 2577 Overlapped_CDS_length : 2334 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131708440 Intersect_end : 131711017 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LINC01312Gene_name : LINC01312; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 154089 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_027030 Tx_version : 1 Tx_start : 133821146 Tx_end : 133853992 Exon_count : 3 Overlapped_tx_length : 32846 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133821146 Intersect_end : 133853992 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LINC01013Gene_name : LINC01013; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507254 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_187602 Tx_version : 1 Tx_start : 132132571 Tx_end : 132169374 Exon_count : 6 Overlapped_tx_length : 36803 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132132571 Intersect_end : 132169374 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr6:132013279-132300375 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_037435 Tx_version : 1 Tx_start : 134979337 Tx_end : 134979432 Exon_count : 1 Overlapped_tx_length : 95 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134979337 Intersect_end : 134979432 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LINC03002Gene_name : LINC03002; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 101928304 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_125855 Tx_version : 1 Tx_start : 134525317 Tx_end : 134540005 Exon_count : 4 Overlapped_tx_length : 14688 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134525317 Intersect_end : 134540005 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_037938 Tx_version : 1 Tx_start : 134113961 Tx_end : 134117680 Exon_count : 2 Overlapped_tx_length : 3719 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134113961 Intersect_end : 134117680 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_039610 Tx_version : 1 Tx_start : 131792171 Tx_end : 131792231 Exon_count : 1 Overlapped_tx_length : 60 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131792171 Intersect_end : 131792231 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr6:131783789-131805626; chr6:131792124-131797784 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
PDE7B-AS1Gene_name : PDE7B-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 644135 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_149042 Tx_version : 1 Tx_start : 136043851 Tx_end : 136072827 Exon_count : 4 Overlapped_tx_length : 28976 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 136043851 Intersect_end : 136072827 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96 B_loss_coord : chr6:135876891-160100724 B_loss_AFmax : 0.9040 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_125852 Tx_version : 1 Tx_start : 134429029 Tx_end : 134478897 Exon_count : 5 Overlapped_tx_length : 49868 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134429029 Intersect_end : 134478897 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_030317 Tx_version : 1 Tx_start : 135239159 Tx_end : 135239256 Exon_count : 1 Overlapped_tx_length : 97 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135239159 Intersect_end : 135239256 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
MIR548AJ1Gene_name : MIR548AJ1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100616191 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_039673 Tx_version : 1 Tx_start : 132115191 Tx_end : 132115263 Exon_count : 1 Overlapped_tx_length : 72 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132115191 Intersect_end : 132115263 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr6:132013279-132300375 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_002436 Tx_version : 1 Tx_start : 132817218 Tx_end : 132817351 Exon_count : 1 Overlapped_tx_length : 133 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132817218 Intersect_end : 132817351 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LINC01010Gene_name : LINC01010; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 154092 |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_038216 Tx_version : 1 Tx_start : 134437715 Tx_end : 134504020 Exon_count : 3 Overlapped_tx_length : 66305 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134437715 Intersect_end : 134504020 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_187593 Tx_version : 1 Tx_start : 131901951 Tx_end : 132102325 Exon_count : 3 Overlapped_tx_length : 200374 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131901951 Intersect_end : 132102325 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : NR_028511 Tx_version : 1 Tx_start : 132608224 Tx_end : 132609302 Exon_count : 1 Overlapped_tx_length : 1078 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132608224 Intersect_end : 132609302 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC101928373Gene_name : LOC101928373; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : NR_187606 Tx_version : 1 Tx_start : 135854035 Tx_end : 135880840 Exon_count : 4 Overlapped_tx_length : 26805 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135854035 Intersect_end : 135880840 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105377999Gene_name : LOC105377999; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22.33 Location2 : UTR Tx : XR_942986 Tx_version : 3 Tx_start : 129855627 Tx_end : 129947908 Exon_count : 8 Overlapped_tx_length : 92281 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129855627 Intersect_end : 129947908 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105378008Gene_name : LOC105378008; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_001744346 Tx_version : 1 Tx_start : 132876599 Tx_end : 132958185 Exon_count : 8 Overlapped_tx_length : 81586 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132876599 Intersect_end : 132958185 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105378010Gene_name : LOC105378010; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_943010 Tx_version : 2 Tx_start : 135106844 Tx_end : 135110417 Exon_count : 3 Overlapped_tx_length : 3573 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135106844 Intersect_end : 135110417 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901531Gene_name : LOC124901531; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007059962 Tx_version : 1 Tx_start : 134206410 Tx_end : 134206514 Exon_count : 1 Overlapped_tx_length : 104 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134206410 Intersect_end : 134206514 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC128092253Gene_name : LOC128092253; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : NM_001414965 Tx_version : 1 Tx_start : 133953303 Tx_end : 133980088 Exon_count : 2 Overlapped_tx_length : 26785 Overlapped_CDS_length : 129 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133953303 Intersect_end : 133980088 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105378005Gene_name : LOC105378005; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_001744344 Tx_version : 2 Tx_start : 131351167 Tx_end : 131443796 Exon_count : 5 Overlapped_tx_length : 92629 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131351167 Intersect_end : 131443796 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901408Gene_name : LOC124901408; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007059784 Tx_version : 1 Tx_start : 136290013 Tx_end : 136306074 Exon_count : 4 Overlapped_tx_length : 16061 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 136290013 Intersect_end : 136306074 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DEL_chr6_2c07ca96B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96 B_loss_coord : chr6:135876891-160100724 B_loss_AFmax : 0.9040 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC107986644Gene_name : LOC107986644; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_001744345 Tx_version : 3 Tx_start : 132804357 Tx_end : 132814288 Exon_count : 3 Overlapped_tx_length : 9931 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 132804357 Intersect_end : 132814288 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105378009Gene_name : LOC105378009; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_943002 Tx_version : 3 Tx_start : 134335809 Tx_end : 134348431 Exon_count : 2 Overlapped_tx_length : 12622 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134335809 Intersect_end : 134348431 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901231Gene_name : LOC124901231; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : 5'UTR-3'UTR Tx : XM_047419612 Tx_version : 1 Tx_start : 133240319 Tx_end : 133253594 Exon_count : 3 Overlapped_tx_length : 13275 Overlapped_CDS_length : 1146 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133240319 Intersect_end : 133253594 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC112267974Gene_name : LOC112267974; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_002956398 Tx_version : 2 Tx_start : 130308480 Tx_end : 130323502 Exon_count : 3 Overlapped_tx_length : 15022 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130308480 Intersect_end : 130323502 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105378004Gene_name : LOC105378004; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_942993 Tx_version : 3 Tx_start : 131063402 Tx_end : 131075178 Exon_count : 3 Overlapped_tx_length : 11776 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131063402 Intersect_end : 131075178 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC102723409Gene_name : LOC102723409; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22.33 Location2 : UTR Tx : XR_001743860 Tx_version : 2 Tx_start : 129492481 Tx_end : 129569566 Exon_count : 8 Overlapped_tx_length : 77085 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129492481 Intersect_end : 129569566 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
6:129502640-129514615; 6:129505191-129505365;[...]P_loss_coord : 6:129502640-129514615; 6:129505191-129505365; 6:129516171-129516367; 6:129516181-129516357 P_loss_source : dbVar:nssv15129201; dbVar:nssv15129438; dbVar:nssv17172533; dbVar:nssv18789162 P_loss_phen : . P_loss_hpo : . |
53P_snvindel_nb : 53 P_snvindel_phen : Abnormality_of_the_musculature; Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency; Inborn_genetic_diseases; LAMA2-related_muscular_dystrophy; Merosin_deficient_congenital_muscular_dystrophy; Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901405Gene_name : LOC124901405; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007059775 Tx_version : 1 Tx_start : 135054892 Tx_end : 135061346 Exon_count : 2 Overlapped_tx_length : 6454 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135054892 Intersect_end : 135061346 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901406Gene_name : LOC124901406; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007059776 Tx_version : 1 Tx_start : 135057717 Tx_end : 135058736 Exon_count : 2 Overlapped_tx_length : 1019 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135057717 Intersect_end : 135058736 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105378003Gene_name : LOC105378003; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_942991 Tx_version : 2 Tx_start : 130741355 Tx_end : 130770671 Exon_count : 3 Overlapped_tx_length : 29316 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130741355 Intersect_end : 130770671 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901403Gene_name : LOC124901403; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007059773 Tx_version : 1 Tx_start : 133300653 Tx_end : 133323796 Exon_count : 2 Overlapped_tx_length : 23143 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133300653 Intersect_end : 133323796 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105378002Gene_name : LOC105378002; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.1 Location2 : UTR Tx : XR_942990 Tx_version : 2 Tx_start : 130719229 Tx_end : 130723459 Exon_count : 4 Overlapped_tx_length : 4230 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 130719229 Intersect_end : 130723459 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC102723445Gene_name : LOC102723445; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_428022 Tx_version : 3 Tx_start : 131084991 Tx_end : 131130361 Exon_count : 4 Overlapped_tx_length : 45370 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 131084991 Intersect_end : 131130361 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105378012Gene_name : LOC105378012; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_943034 Tx_version : 3 Tx_start : 135796398 Tx_end : 135806171 Exon_count : 3 Overlapped_tx_length : 9773 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135796398 Intersect_end : 135806171 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901402Gene_name : LOC124901402; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007059772 Tx_version : 1 Tx_start : 133748933 Tx_end : 133772196 Exon_count : 3 Overlapped_tx_length : 23263 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 133748933 Intersect_end : 133772196 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901407Gene_name : LOC124901407; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_007059783 Tx_version : 1 Tx_start : 135323383 Tx_end : 135327965 Exon_count : 2 Overlapped_tx_length : 4582 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135323383 Intersect_end : 135327965 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901404Gene_name : LOC124901404; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2 Location2 : UTR Tx : XR_007059774 Tx_version : 1 Tx_start : 134082046 Tx_end : 134121433 Exon_count : 3 Overlapped_tx_length : 39387 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134082046 Intersect_end : 134121433 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC101928277Gene_name : LOC101928277; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.2-q23.3 Location2 : UTR Tx : XR_001744364 Tx_version : 2 Tx_start : 134673888 Tx_end : 134879364 Exon_count : 5 Overlapped_tx_length : 205476 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 134673888 Intersect_end : 134879364 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC101928326Gene_name : LOC101928326; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_245604 Tx_version : 4 Tx_start : 135807144 Tx_end : 135809857 Exon_count : 2 Overlapped_tx_length : 2713 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135807144 Intersect_end : 135809857 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC105378011Gene_name : LOC105378011; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q23.3 Location2 : UTR Tx : XR_001744368 Tx_version : 2 Tx_start : 135195894 Tx_end : 135236195 Exon_count : 3 Overlapped_tx_length : 40301 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 135195894 Intersect_end : 135236195 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 7000000 |
splitAnnotation_mode : split |
LOC124901401Gene_name : LOC124901401; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : q22.33 Location2 : UTR Tx : XR_007059767 Tx_version : 1 Tx_start : 129479612 Tx_end : 129486474 Exon_count : 2 Overlapped_tx_length : 6862 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 129479612 Intersect_end : 129486474 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
7P_snvindel_nb : 7 P_snvindel_phen : Congenital_Muscular_Dystrophy,_LAMA2-related; Inborn_genetic_diseases; LAMA2-related_muscular_dystrophy; Merosin_deficient_congenital_muscular_dystrophy; Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23 |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
5ACMG_class : 5 AnnotSV_ranking_score : 1.1 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV. 3A (2 genes, +0.00): 0–24 genes wholly or partially included 5G (NPHP1, +0.10): The patient phenotype is nonspecific, but is consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.5). |
DELSV_type : DEL SV_length : 84420 Gene_count : 2 |
fullAnnotation_mode : full |
.Location : . CytoBand : q13 |
0.6252Exomiser_gene_pheno_score : 0.6252 |
CPhenoGenius_specificity : C |
.RE_gene : . |
2:110144494-110150256; 2:110147940-110205013;[...]P_loss_coord : 2:110144494-110150256; 2:110147940-110205013; 2:110163049-110204968; 2:110201282-110201487 P_loss_source : dbVar:nssv15144285; dbVar:nssv16214552; dbVar:nssv18786491; morbid:NPHP1 P_loss_phen : Joubert syndrome 4, 609583 (3) AR; Nephronophthisis 1, juvenile, 256100 (3) AR; Senior-Loken syndrome-1, 266900 (3) AR P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15155128; dbVar:nssv15124851; dbVar:nssv15146967; dbVar:nssv15152708; dbVar:nssv16254438; dbVar:nssv15147710; dbVar:nssv15147572; dbVar:nssv18326571; dbVar:nssv15132387; dbVar:nssv15137765; dbVar:nssv15605771; dbVar:nssv17955613; dbVar:nssv17976057; dbVar:nssv18830912; dbVar:nssv16213219; dbVar:nssv15773532; dbVar:nssv15129183; dbVar:nssv15130011; dbVar:nssv15131820; dbVar:nssv15605994; dbVar:nssv15772989; dbVar:nssv15772328; nssv15774211; nssv15774285; dbVar:nssv15772491; nssv15775499; nssv15776760; dbVar:nssv15774572; dbVar:nssv15771873; nssv15772143; nssv15772267; nssv15772410; nssv15772683; nssv15772830; nssv15772883; nssv15772986; nssv15773184; nssv15773192; nssv15773193; nssv15773216; nssv15773344; nssv15773490; nssv15773586; nssv15773592; nssv15774228; nssv15774258; nssv15774274; nssv15774303; nssv15774350; nssv15774371; nssv15774453; nssv15774504; nssv15774698; nssv15774854; nssv15774857; nssv15775131; nssv15775222; nssv15775224; nssv15775390; nssv15775550; nssv15775566; nssv15775582; nssv15775799; nssv15775990; nssv15776257; nssv15776295; nssv15776393; nssv15776468; nssv15776540; nssv15776557; nssv15776597; nssv15776675; nssv15776681; nssv15776714; nssv15776737; nssv15776757; dbVar:nssv15774774; dbVar:nssv15773638; dbVar:nssv15775369; dbVar:nssv15771934; nssv15773028; dbVar:nssv15771956; dbVar:nssv15774260; dbVar:nssv15129976; dbVar:nssv17171517; dbVar:nssv18841842; dbVar:nssv17649959; dbVar:nssv15123350; nssv16216823; nssv18786390; nssv18786391; dbVar:nssv17649885; dbVar:nssv15123488; dbVar:nssv15130851; dbVar:nssv16212793; dbVar:nssv17973077; dbVar:nssv18841876; nssv15144384; dbVar:nssv15152818 po_P_loss_coord : 2:11364193-110608419; 2:40379903-146145196; 2:50659295-242160331; 2:105806854-114297251; 2:106404327-110608419; 2:106413225-112430165; 2:108940172-116812576; 2:109181792-124900803; 2:109746742-110608419; 2:110025660-110371270; 2:110066681-110225841; 2:110067381-110226126; 2:110069920-110205214; 2:110091574-110205023; 2:110091574-110212811; 2:110091604-110204968; 2:110095228-110223342; 2:110095384-110217525; 2:110095947-110226893; 2:110104901-110207160; 2:110104901-110226126; 2:110106251-110222718; 2:110106251-110223342; 2:110106251-110224640; 2:110106251-110229135; 2:110113932-110223342; 2:110116258-110215738; 2:110116258-110217676; 2:110116258-110223342; 2:110116258-110224640; 2:110116258-110225841; 2:110116258-110231130; 2:110118113-110209952; 2:110122337-110206062; 2:110123183-110205164; 2:110123317-110205082; 2:110123337-110205062; 2:110123349-110205013; 2:110123661-110206271; 2:110123772-110204988; 2:110123792-110201494; 2:110123792-110201514; 2:110123792-110204968; 2:110222718-112379952 po_P_loss_percent : 0.09; 0.08; 0.04; 0.99; 2.01; 1.40; 1.07; 0.54; 9.80; 24.43; 53.04; 53.18; 49.38; 58.72; 61.37; 58.72; 65.89; 64.78; 64.47; 67.24; 69.64; 72.39; 72.10; 71.31; 68.70; 77.16; 77.74; 78.16; 78.84; 77.89; 77.04; 73.49; 77.91; 80.81; 81.43; 81.55; 81.56; 81.56; 82.15; 81.98; 81.20; 81.20; 82.00; 0.00 |
41P_snvindel_nb : 41 P_snvindel_phen : Inborn_genetic_diseases; Joubert_syndrome_and_related_disorders; Joubert_syndrome_with_renal_defect; NPHP1-Related_Disorders; NPHP1-related_condition; Nephronophthisis; Nephronophthisis_1; Senior-Loken_syndrome_1 |
dbVar; gnomAD-SV_v3_DEL_chr2_8881e883B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883 B_loss_coord : chr2:106014408-123234450; chr2:110094922-110231423; chr2:110095276-110225397 B_loss_AFmax : 0.2151 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr2:110094922-110231423 dbVar; chr2:110096262-110194743 dbVar; chr2:110187644-110188357 dbVar; chr2:110187652-110188317 dbVar; po_B_loss_someG_coord : chr2:106014408-123234450 gnomAD-SV_v3_DEL_chr2_8881e883; chr2:110095276-110225397 dbVar; chr2:110139413-110160345 dbVar; 2:110187650-110188317 DDD:6962; chr2:110212292-110212328 HPRC:pbsv.DEL.8139 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 2:110135954-110138326 Repeat_type_left : L1PA4 Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 2:110222825-110223134 Repeat_type_right : AluSz Gap_right : . GC_content_right : 0.460 |
|||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 84420 |
splitAnnotation_mode : split |
NPHP1Gene_name : NPHP1; LOEUF_bin : 5 GnomAD_pLI : 1.2410e-17 ExAC_pLI : 1.3652e-08 HI : 30 TS : 0 DDD_HI_percent : 60.82 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.872632456119582 ExAC_misZ : -0.762902587480443 GenCC_disease : Bardet-Biedl syndrome; Joubert syndrome with renal defect; Senior-Loken syndrome; nephronophthisis 1 GenCC_moi : AR GenCC_classification : Definitive; Moderate; Strong; Supportive GenCC_pmid : 10839884; 20615230[PMID]_20301500[PMID]; 22819833[PMID]; 23559409; 24746959[PMID]; 8852662; 9326933; 9382140; NULL NCBI_gene_ID : 4867 |
txStart-intron16Location : txStart-intron16 CytoBand : q13 Location2 : 5'UTR-CDS Tx : NM_000272 Tx_version : 5 Tx_start : 110123347 Tx_end : 110205013 Exon_count : 20 Overlapped_tx_length : 66610 Overlapped_CDS_length : 1697 Overlapped_CDS_percent : 77 Frameshift : yes Dist_nearest_SS : 5138 Nearest_SS_type : 5' Intersect_start : 110138403 Intersect_end : 110205013 |
0.6252Exomiser_gene_pheno_score : 0.6252 Human_pheno_evidence : Biparietal narrowing; Brachydactyly; Craniosynostosis; Hand polydactyly; Joubert syndrome with renal defect Mouse_pheno_evidence : Craniosynostosis; retina degeneration Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.18 |
.RE_gene : . |
2:110144494-110150256; 2:110147940-110205013;[...]P_loss_coord : 2:110144494-110150256; 2:110147940-110205013; 2:110163049-110204968; 2:110201282-110201487 P_loss_source : dbVar:nssv15144285; dbVar:nssv16214552; dbVar:nssv18786491; morbid:NPHP1 P_loss_phen : Joubert syndrome 4, 609583 (3) AR; Nephronophthisis 1, juvenile, 256100 (3) AR; Senior-Loken syndrome-1, 266900 (3) AR P_loss_hpo : . |
41P_snvindel_nb : 41 P_snvindel_phen : Inborn_genetic_diseases; Joubert_syndrome_and_related_disorders; Joubert_syndrome_with_renal_defect; NPHP1-Related_Disorders; NPHP1-related_condition; Nephronophthisis; Nephronophthisis_1; Senior-Loken_syndrome_1 |
dbVar; gnomAD-SV_v3_DEL_chr2_8881e883B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883 B_loss_coord : chr2:106014408-123234450; chr2:110094922-110231423; chr2:110095276-110225397 B_loss_AFmax : 0.2151 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=5ACMG_class : full=5 |
DELSV_type : DEL SV_length : 84420 |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : q13 Location2 : 5'UTR-3'UTR Tx : NM_001384134 Tx_version : 1 Tx_start : 110211528 Tx_end : 110212547 Exon_count : 2 Overlapped_tx_length : 1019 Overlapped_CDS_length : 171 Overlapped_CDS_percent : 88 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 110211528 Intersect_end : 110212547 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr2_8881e883B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883 B_loss_coord : chr2:106014408-123234450; chr2:110094922-110231423; chr2:110095276-110225397 B_loss_AFmax : 0.2151 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : -0.9 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5G (ZNF595, +0.10): The patient phenotype is nonspecific, but is consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.5). |
DELSV_type : DEL SV_length : 330 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p16.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6286Exomiser_gene_pheno_score : 0.6286 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18330206; dbVar:nssv16254942; dbVar:nssv15140532; dbVar:nssv15129769; dbVar:nssv15124924; dbVar:nssv15139152; dbVar:nssv15136460; dbVar:nssv15138769; dbVar:nssv15136794; dbVar:nssv15139111; dbVar:nssv15145893; dbVar:nssv15145934; dbVar:nssv15134095; dbVar:nssv15147322; dbVar:nssv8639431; dbVar:nssv15164280; dbVar:nssv16208663; dbVar:nssv15123439; dbVar:nssv15135098; dbVar:nssv15146364; dbVar:nssv15121022; dbVar:nssv15119845; dbVar:nssv16207942; dbVar:nssv15151269; dbVar:nssv15149902; dbVar:nssv15146789; dbVar:nssv17976873; dbVar:nssv15151109; dbVar:nssv17957198; dbVar:nssv15137532; dbVar:nssv15148266; dbVar:nssv17956854; dbVar:nssv17976719; dbVar:nssv16254943; dbVar:nssv16207937; dbVar:nssv15152168; dbVar:nssv15141218; dbVar:nssv16254952; dbVar:nssv15150277; dbVar:nssv17976824; dbVar:nssv16254953; dbVar:nssv15139308; dbVar:nssv16207941; dbVar:nssv15138820; nssv16207940; dbVar:nssv16207939; dbVar:nssv18330137; dbVar:nssv18330792; dbVar:nssv17649921; dbVar:nssv15150501; dbVar:nssv15146961 po_P_loss_coord : 4:10002-12783377; 4:10002-1335080; 4:29215-1923781; 4:33575-2354789; 4:33575-4533054; 4:36425-1956092; 4:36425-3265531; 4:36425-3881330; 4:36425-3974044; 4:36425-7359817; 4:36425-9369341; 4:37336-15869056; 4:37336-3775112; 4:37336-9369258; 4:44020-19794559; 4:49557-2008670; 4:49557-24278859; 4:49557-8870748; 4:51520-1405362; 4:56879-14499760; 4:56879-2213205; 4:56879-3870653; 4:68454-10311174; 4:68454-10334408; 4:68454-13768483; 4:68454-14612453; 4:68454-1510626; 4:68454-15971760; 4:68454-1673416; 4:68454-1997458; 4:68454-20385608; 4:68454-20585544; 4:68454-20962952; 4:68454-2135484; 4:68454-2784857; 4:68454-3890257; 4:68454-4043258; 4:68454-5044599; 4:68454-5318046; 4:68454-5577740; 4:68454-5829794; 4:68454-6055026; 4:68454-6982780; 4:68454-8730129; 4:68454-9766517; 4:68455-12368359; 4:68455-2435563; 4:68707-18911372; 4:71661-15301115; 4:71661-29005123 po_P_loss_percent : 0.00; 0.02; 0.02; 0.01; 0.01; 0.02; 0.01; 0.01; 0.01; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.02; 0.00; 0.00; 0.02; 0.00; 0.02; 0.01; 0.00; 0.00; 0.00; 0.00; 0.02; 0.00; 0.02; 0.02; 0.00; 0.00; 0.00; 0.02; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr4:68022-136350; chr4:69108-230411 B_loss_AFmax : 0.01 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:69108-230411 dbVar po_B_loss_someG_coord : chr4:68022-136350 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.425 |
||
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 330 |
splitAnnotation_mode : split |
ZNF595Gene_name : ZNF595; LOEUF_bin : 6 GnomAD_pLI : 3.0550e-01 ExAC_pLI : 1.7753e-05 HI : . TS : . DDD_HI_percent : 93 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -2.08573739588537 ExAC_misZ : -0.684191486481177 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 152687 |
intron2-intron2Location : intron2-intron2 CytoBand : p16.3 Location2 : CDS Tx : NM_001286052 Tx_version : 2 Tx_start : 53320 Tx_end : 88208 Exon_count : 3 Overlapped_tx_length : 331 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 11995 Nearest_SS_type : 5' Intersect_start : 71551 Intersect_end : 71882 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6286Exomiser_gene_pheno_score : 0.6286 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; small presphenoid bone Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_loss_source : dbVar B_loss_coord : chr4:68022-136350; chr4:69108-230411 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (1 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 1000 Gene_count : 1 |
fullAnnotation_mode : full |
YIF1AGene_name : YIF1A; LOEUF_bin : 8 GnomAD_pLI : 6.1818e-10 ExAC_pLI : 2.0823e-09 HI : . TS : . DDD_HI_percent : 28.74 ExAC_cnvZ : 1.13994907670468 ExAC_delZ : 0.682600618126517 ExAC_dupZ : 0.996104151362221 ExAC_synZ : 0.265437672086105 ExAC_misZ : -0.933513120968195 Closest_left : CNIH2 Closest_right : TMEM151A |
.Location : . CytoBand : q13.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
TMEM151A (morbid/RE=GH_promoter_enhancer); RE_gene : TMEM151A (morbid/RE=GH_promoter_enhancer); |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv17973171; nssv17973369; dbVar:nssv15148225 po_P_loss_coord : 11:11814023-118502397; 11:64755312-66516223; 11:65741432-67705669 po_P_loss_percent : 0.00; 0.06; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:66286960-66287135; 11:66287142-66287333 Repeat_type_left : L2c; MIRb Gap_left : . GC_content_left : 0.515 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.605 |
|
full=3ACMG_class : full=3 |
DELSV_type : DEL SV_length : 1000 |
splitAnnotation_mode : split |
YIF1AGene_name : YIF1A; LOEUF_bin : 8 GnomAD_pLI : 6.1818e-10 ExAC_pLI : 2.0823e-09 HI : . TS : . DDD_HI_percent : 28.74 ACMG : . ExAC_cnvZ : 1.13994907670468 ExAC_delZ : 0.682600618126517 ExAC_dupZ : 0.996104151362221 ExAC_synZ : 0.265437672086105 ExAC_misZ : -0.933513120968195 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10897 |
exon2-intron4Location : exon2-intron4 CytoBand : q13.2 Location2 : CDS Tx : NM_001300861 Tx_version : 2 Tx_start : 66284579 Tx_end : 66289143 Exon_count : 7 Overlapped_tx_length : 1001 Overlapped_CDS_length : 192 Overlapped_CDS_percent : 26 Frameshift : no Dist_nearest_SS : 8 Nearest_SS_type : 5' Intersect_start : 66287087 Intersect_end : 66288088 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material. 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 122 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC107984412 Closest_right : LOC124902794 |
.Location : . CytoBand : q25 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16207657; dbVar:nssv15147420; dbVar:nssv15132614; dbVar:nssv15153878; dbVar:nssv15139751; dbVar:nssv15134309; dbVar:nssv15145899; dbVar:nssv15142376; dbVar:nssv18830814; dbVar:nssv15755693; dbVar:nssv15139559; dbVar:nssv16208319; dbVar:nssv15142485; dbVar:nssv15142158; dbVar:nssv15139488; dbVar:nssv15139776; dbVar:nssv15148132; dbVar:nssv15145880; dbVar:nssv15137036; dbVar:nssv15126979; dbVar:nssv18330237; dbVar:nssv15132753; dbVar:nssv15147462; dbVar:nssv15150835; dbVar:nssv15132600; dbVar:nssv15133149; dbVar:nssv15137682; dbVar:nssv16207649; dbVar:nssv16208320; dbVar:nssv15145911; dbVar:nssv15135035; dbVar:nssv15171840; dbVar:nssv15606041; dbVar:nssv16253911; dbVar:nssv15134800; dbVar:nssv15145891; dbVar:nssv15129449; dbVar:nssv15148876; dbVar:nssv15134314; dbVar:nssv15124336; dbVar:nssv15142150; dbVar:nssv18326401; dbVar:nssv15145868; dbVar:nssv15132067; dbVar:nssv16254846; dbVar:nssv15153875; dbVar:nssv15139665; dbVar:nssv17976508; dbVar:nssv15137615; dbVar:nssv15155376; dbVar:nssv15133176; dbVar:nssv15142089; dbVar:nssv15134315; dbVar:nssv16254848; dbVar:nssv15148965; dbVar:nssv18330747; dbVar:nssv15776136; dbVar:nssv15146733 po_P_loss_coord : 11:114562592-131360571; 11:119424298-135075271; 11:119433910-134998513; 11:119667955-135068576; 11:119936765-134998513; 11:120507266-134576266; 11:120515760-135075271; 11:120656313-135068576; 11:120660320-134387659; 11:120706276-135064169; 11:120744666-134998513; 11:120871832-135068576; 11:121265895-135068576; 11:121545553-135068576; 11:121611477-135068576; 11:121630364-134998454; 11:121689053-135075271; 11:121780460-135075271; 11:121806548-135068576; 11:121808921-135076622; 11:123105117-135068576; 11:123799939-134998526; 11:123963075-135075271; 11:123989579-134998513; 11:124155724-134998513; 11:124205226-134998526; 11:124315026-134818116; 11:124357045-135074583; 11:124362713-135068576; 11:124940060-135075271; 11:125241473-134998513; 11:125496559-135068576; 11:125576206-135034169; 11:125915593-135068576; 11:126046359-134998513; 11:126046359-135075271; 11:126067489-135064169; 11:126199590-135075271; 11:126433741-135040246; 11:126761664-134998513; 11:126893049-135068576; 11:127204341-135076622; 11:127564483-135075271; 11:127604661-134998454; 11:127732221-135068576; 11:127820691-132534223; 11:127915965-135068576; 11:128764791-134387847; 11:128867947-133086998; 11:129202399-135068576; 11:129700537-134998513; 11:129851915-135068576; 11:130060293-135040246; 11:130258429-135068576; 11:130706505-135075271; 11:131065741-135068576; 11:131099378-135068576; 11:131212029-135075271 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr11:131266738-131266810 HPRC:pbsv.DEL.9074 po_B_loss_someG_coord : 11:131266738-131266810 CMRI:1_pbsv.DEL.1748_duplicate8 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:131264979-131266870 Repeat_type_left : (AT)n Gap_left : . GC_content_left : 0.210 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:131264979-131266870; 11:131266877-131267242 Repeat_type_right : (AT)n; L1PB1 Gap_right : . GC_content_right : 0.240 |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.6 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2I-2 (IFT140, +0.45): NA 2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5H (IFT140, +0.15): The patient phenotype is highly specific and consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.7). |
DUPSV_type : DUP SV_length : 5000 Gene_count : 1 |
fullAnnotation_mode : full |
IFT140Gene_name : IFT140; LOEUF_bin : 4 GnomAD_pLI : 9.9140e-24 ExAC_pLI : 9.1377e-18 HI : . TS : . DDD_HI_percent : 69.24 ExAC_cnvZ : -0.844654865976432 ExAC_delZ : -1.52736818830718 ExAC_dupZ : -0.448946429663129 ExAC_synZ : -0.922111894578121 ExAC_misZ : -1.23259677674915 Closest_left : TMEM204 Closest_right : LOC105371046 |
.Location : . CytoBand : p13.3 |
0.8009Exomiser_gene_pheno_score : 0.8009 |
BPhenoGenius_specificity : B |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15158812; dbVar:nssv15148703; dbVar:nssv15147067; dbVar:nssv15148669; dbVar:nssv15147068; dbVar:nssv17649874; dbVar:nssv15152396; dbVar:nssv15150758; dbVar:nssv15149904; dbVar:nssv15154767; dbVar:nssv16254459; dbVar:nssv15149503; dbVar:nssv15150639; nssv15151292; dbVar:nssv15158813; dbVar:nssv15158224; dbVar:nssv15147425; dbVar:nssv15147959; dbVar:nssv15147069; dbVar:nssv15148094; dbVar:nssv15147790; dbVar:nssv8639650; dbVar:nssv15606077; dbVar:nssv18326373; dbVar:nssv15146792; dbVar:nssv15147071; dbVar:nssv15145754; dbVar:nssv15155466 po_P_gain_coord : 16:11452-90228224; 16:19194-90207973; 16:23142-11296695; 16:28802-9075591; 16:29942-2560460; 16:34486-5201012; 16:35881-11115431; 16:35881-19795599; 16:35881-22430686; 16:35881-3166550; 16:35881-5199456; 16:35881-9789272; 16:35882-90088654; 16:38166-90096867; 16:38166-90208287; 16:43733-13326806; 16:46767-11525516; 16:46767-3214623; 16:46767-4247185; 16:47134-5072973; 16:52840-28316355; 16:59981-4266796; 16:61046-6577458; 16:666663-15743104; 16:1221652-2233773; 16:1278822-1919148; 16:1455184-4365345 po_P_gain_percent : 0.01; 0.01; 0.04; 0.06; 0.20; 0.10; 0.05; 0.03; 0.02; 0.16; 0.10; 0.05; 0.01; 0.01; 0.01; 0.04; 0.04; 0.16; 0.12; 0.10; 0.02; 0.12; 0.08; 0.03; 0.49; 0.78; 0.17 |
1P_snvindel_nb : 1 P_snvindel_phen : Saldino-Mainzer_syndrome |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.595 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 16:1569950-1570766 Repeat_type_right : L1MC3 Gap_right : . GC_content_right : 0.545 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 5000 |
splitAnnotation_mode : split |
IFT140Gene_name : IFT140; LOEUF_bin : 4 GnomAD_pLI : 9.9140e-24 ExAC_pLI : 9.1377e-18 HI : 30 TS : . DDD_HI_percent : 69.24 ACMG : . ExAC_cnvZ : -0.844654865976432 ExAC_delZ : -1.52736818830718 ExAC_dupZ : -0.448946429663129 ExAC_synZ : -0.922111894578121 ExAC_misZ : -1.23259677674915 GenCC_disease : IFT140-related recessive ciliopathy; Jeune syndrome; Leber congenital amaurosis; autosomal dominant polycystic kidney disease; retinitis pigmentosa; retinitis pigmentosa 80; short-rib thoracic dysplasia 9 with or without polydactyly GenCC_moi : AD; AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 154653; 22503633; 22503633[PMID]; 22503633[PMID]_23418020[PMID]_24009529[PMID]; 23418020; 24009529; 26216056; 26216056[PMID]; 26968735; 30479745; 31034313 NCBI_gene_ID : 9742 |
intron6-intron8Location : intron6-intron8 CytoBand : p13.3 Location2 : CDS Tx : XM_011522767 Tx_version : 2 Tx_start : 1510426 Tx_end : 1587185 Exon_count : 23 Overlapped_tx_length : 5001 Overlapped_CDS_length : 249 Overlapped_CDS_percent : 7 Frameshift : no Dist_nearest_SS : 532 Nearest_SS_type : 5' Intersect_start : 1565628 Intersect_end : 1570629 |
0.8009Exomiser_gene_pheno_score : 0.8009 Human_pheno_evidence : Brachydactyly; Craniosynostosis; Short toe; Short-rib thoracic dysplasia 9 with or without polydactyly Mouse_pheno_evidence : Brachydactyly; polydactyly Fish_pheno_evidence : . |
BPhenoGenius_specificity : B PhenoGenius_phenotype : Craniosynostosis, Brachydactyly PhenoGenius_score : 0.75 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
1P_snvindel_nb : 1 P_snvindel_phen : Saldino-Mainzer_syndrome |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (KAZN, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 240 Gene_count : 1 |
fullAnnotation_mode : full |
KAZNGene_name : KAZN; LOEUF_bin : 1 GnomAD_pLI : 5.9671e-01 ExAC_pLI : 1.4459e-01 HI : . TS : . DDD_HI_percent : 15.65 ExAC_cnvZ : -0.222130110416872 ExAC_delZ : 0.596399052261409 ExAC_dupZ : -0.567361044244512 ExAC_synZ : 0.298062600105162 ExAC_misZ : 2.93939175214053 Closest_left : PRDM2 Closest_right : LOC107985467 |
.Location : . CytoBand : p36.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3308Exomiser_gene_pheno_score : 0.3308 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15148982; dbVar:nssv15128051; dbVar:nssv17976696; dbVar:nssv15147542; dbVar:nssv15133500 po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:6554886-16056011; 1:8930032-16191550; 1:10115498-16283149; 1:11021752-15236671; 1:13619980-18466172 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DUP_chr1_9ad47b17B_gain_source : gnomAD-SV_v3_DUP_chr1_9ad47b17 B_gain_coord : chr1:14110160-14112070 B_gain_AFmax : 0.3453 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr1:14110160-14112070 gnomAD-SV_v3_DUP_chr1_9ad47b17 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.455 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 1:14110272-14110425 Repeat_type_right : ORSL-2a Gap_right : . GC_content_right : 0.405 |
|
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 240 |
splitAnnotation_mode : split |
KAZNGene_name : KAZN; LOEUF_bin : 1 GnomAD_pLI : 5.9671e-01 ExAC_pLI : 1.4459e-01 HI : . TS : . DDD_HI_percent : 15.65 ACMG : . ExAC_cnvZ : -0.222130110416872 ExAC_delZ : 0.596399052261409 ExAC_dupZ : -0.567361044244512 ExAC_synZ : 0.298062600105162 ExAC_misZ : 2.93939175214053 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23254 |
intron1-intron1Location : intron1-intron1 CytoBand : p36.21 Location2 : CDS Tx : XM_017000769 Tx_version : 3 Tx_start : 13892823 Tx_end : 15063854 Exon_count : 10 Overlapped_tx_length : 241 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 70034 Nearest_SS_type : 3' Intersect_start : 14110159 Intersect_end : 14110400 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3308Exomiser_gene_pheno_score : 0.3308 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; decreased bone mineral content Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
gnomAD-SV_v3_DUP_chr1_9ad47b17B_gain_source : gnomAD-SV_v3_DUP_chr1_9ad47b17 B_gain_coord : chr1:14110160-14112070 B_gain_AFmax : 0.3453 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (SECTM1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 1429 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q25.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
CSNK1D (morbid/RE=GH_promoter_enhancer); RE_gene : CSNK1D (morbid/RE=GH_promoter_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15149626; dbVar:nssv15776727; dbVar:nssv15153193; dbVar:nssv15152233; dbVar:nssv15147088; dbVar:nssv15146769; dbVar:nssv17976673; dbVar:nssv15142500; dbVar:nssv15132539; dbVar:nssv15155559; dbVar:nssv15132085; dbVar:nssv15132209; dbVar:nssv15775999; dbVar:nssv15135885 po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:44503317-83137846; 17:64782603-83084062; 17:65693554-83084062; 17:69006275-83084062; 17:69209080-83086677; 17:69916436-83102552; 17:75485429-83085323; 17:75955621-83084062; 17:78092237-83086677; 17:78556530-83084062; 17:78901960-83086677; 17:78918651-83021095; 17:80635113-83084062; 17:81008197-83102584 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.02; 0.03; 0.03; 0.03; 0.03; 0.06; 0.07 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr17:81949112-82836454; chr17:82176281-82412415; chr17:82276127-82416065; chr17:82328477-82387351; chr17:82329124-82341124; chr17:82331624-82366124 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr17:82176281-82412415 dbVar; chr17:82328477-82387351 dbVar; chr17:82331624-82366124 dbVar; po_B_gain_someG_coord : chr17:81949112-82836454 dbVar; chr17:82276127-82416065 dbVar; chr17:82329124-82341124 dbVar; chr17:82333565-82333659 gnomAD-SV_v3_DUP_chr17_bfdbe9b5 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.730 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.630 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 1429 |
splitAnnotation_mode : split |
SECTM1Gene_name : SECTM1; LOEUF_bin : 5 GnomAD_pLI : 5.7603e-02 ExAC_pLI : 1.7240e-01 HI : . TS : . DDD_HI_percent : 99.6 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.275412633643658 ExAC_misZ : 0.10738688076857 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6398 |
txStart-intron1Location : txStart-intron1 CytoBand : q25.3 Location2 : 5'UTR Tx : XM_005256392 Tx_version : 4 Tx_start : 82321023 Tx_end : 82333959 Exon_count : 5 Overlapped_tx_length : 389 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 251 Nearest_SS_type : 5' Intersect_start : 82333570 Intersect_end : 82333959 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr17:81949112-82836454; chr17:82176281-82412415; chr17:82276127-82416065; chr17:82328477-82387351; chr17:82329124-82341124; chr17:82331624-82366124 B_gain_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene. 2L (ZDHHC11B, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 200 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p15.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15125831; dbVar:nssv15146713; dbVar:nssv15139036; dbVar:nssv15136993; dbVar:nssv15145871; dbVar:nssv15147378; dbVar:nssv15147960; dbVar:nssv15146962; dbVar:nssv15147414; dbVar:nssv15164765; dbVar:nssv15164764; dbVar:nssv15149091; dbVar:nssv15147291; dbVar:nssv15146993; dbVar:nssv15146992; dbVar:nssv15150844; dbVar:nssv17976838; dbVar:nssv15153658; dbVar:nssv15151111; nssv15151221 po_P_gain_coord : 5:13649-181478028; 5:22150-10308736; 5:22150-15851376; 5:22150-1659135; 5:22150-2323943; 5:22150-23607053; 5:22150-28075106; 5:22150-33418188; 5:22150-34041150; 5:22150-74412725; 5:25330-181266343; 5:25330-18697919; 5:25330-19661519; 5:49979-46114984; 5:54840-35680845; 5:54840-45649861; 5:113462-20240283; 5:113462-29310413; 5:113462-35739302; 5:113463-181292788 po_P_gain_percent : 0.00; 0.00; 0.00; 0.01; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; DDD:16279; DDD:16284; DDD:16285; dbVar[...]B_gain_source : 1000g; DDD:16279; DDD:16284; DDD:16285; dbVar; dgv1061e214; dgv131e203 B_gain_coord : chr5:432036-919240; 5:653467-874903; chr5:685741-850534; 5:686489-840158; 5:708488-865362; chr5:714235-736385; chr5:714873-733823; 5:714874-733823; 5:714874-733823; 5:714874-733823; 5:714874-733823; 5:717523-748329 B_gain_AFmax : 0.3222 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : 5:653467-874903 dgv131e203; 5:686489-840158 DDD:16279; chr5:714235-736385 dbVar; 5:714874-733823 1000g; 5:714874-733823 1000g; 5:717523-748329 DDD:16285 po_B_gain_someG_coord : chr5:432036-919240 dbVar; chr5:685741-850534 dbVar; 5:708488-865362 DDD:16284; chr5:714873-733823 dbVar; 5:714874-733823 1000g; 5:714874-733823 dgv1061e214 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 5:686008-731279 Repeat_coord_left : 5:723274-723489 Repeat_type_left : MIRb Gap_left : . GC_content_left : 0.460 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 5:686008-731279 Repeat_coord_right : 5:723274-723489 Repeat_type_right : MIRb Gap_right : . GC_content_right : 0.470 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 200 |
splitAnnotation_mode : split |
ZDHHC11BGene_name : ZDHHC11B; LOEUF_bin : 8 GnomAD_pLI : 3.6787e-13 ExAC_pLI : 4.3228e-02 HI : . TS : . DDD_HI_percent : 98.37 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.535222227518795 ExAC_misZ : -0.0274451648003615 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 653082 |
intron13-intron13Location : intron13-intron13 CytoBand : p15.33 Location2 : 3'UTR Tx : XM_017010112 Tx_version : 2 Tx_start : 710354 Tx_end : 769937 Exon_count : 15 Overlapped_tx_length : 201 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6328 Nearest_SS_type : 3' Intersect_start : 723193 Intersect_end : 723394 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; DDD:16279; DDD:16284; DDD:16285; dbVar[...]B_gain_source : 1000g; DDD:16279; DDD:16284; DDD:16285; dbVar; dgv1061e214; dgv131e203 B_gain_coord : chr5:432036-919240; 5:653467-874903; chr5:685741-850534; 5:686489-840158; 5:708488-865362; chr5:714235-736385; chr5:714873-733823; 5:714874-733823; 5:714874-733823; 5:714874-733823; 5:714874-733823; 5:717523-748329 B_gain_AFmax : 0.3222 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.0 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 2L (PLD5, +0.00): One or both breakpoints are within gene(s) of no established clinical significance. 3A (1 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 200 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q43 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15777262; dbVar:nssv15151024; dbVar:nssv18326443; dbVar:nssv16207620; dbVar:nssv15146793; dbVar:nssv15147003; dbVar:nssv15146656; dbVar:nssv16215284; dbVar:nssv15145669; dbVar:nssv15154064; dbVar:nssv15146178; dbVar:nssv18329268; dbVar:nssv15147314; dbVar:nssv15147005; dbVar:nssv15146390; dbVar:nssv15150211; dbVar:nssv15147383; dbVar:nssv15146391; dbVar:nssv15126459; dbVar:nssv15146018; dbVar:nssv15156411; dbVar:nssv15147341; dbVar:nssv15149590; dbVar:nssv15170725; dbVar:nssv15149119; dbVar:nssv15774642; dbVar:nssv15776729; dbVar:nssv15145719; dbVar:nssv15156414; dbVar:nssv15145830; dbVar:nssv15136049; dbVar:nssv15142850 po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:182419639-248817041; 1:195514310-248918801; 1:197898785-248930485; 1:204076821-248924793; 1:207346643-248930485; 1:209646208-248931113; 1:209963626-248918469; 1:209979450-248924793; 1:214023813-248918469; 1:218079210-248930485; 1:223347694-248918469; 1:223785238-248930485; 1:223815148-248918469; 1:223828501-248891309; 1:223887781-248891309; 1:223917593-248930485; 1:224022863-248918469; 1:224096489-248918469; 1:224862286-248938897; 1:225438481-248787200; 1:228342273-248887399; 1:229022910-248918469; 1:231535125-248918801; 1:232096590-248924793; 1:233915119-248918860; 1:235419266-248930485; 1:238505994-248930485; 1:240244445-248891309; 1:240794756-243535565; 1:241625116-245453782; 1:241967140-245542967; 1:242161097-248930485 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.200 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 1:242393777-242394066 Repeat_type_right : AluSx Gap_right : . GC_content_right : 0.565 |
||
full=3ACMG_class : full=3 |
DUPSV_type : DUP SV_length : 200 |
splitAnnotation_mode : split |
PLD5Gene_name : PLD5; LOEUF_bin : 2 GnomAD_pLI : 3.0678e-02 ExAC_pLI : 1.2420e-01 HI : . TS : . DDD_HI_percent : 32.58 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.500445291205794 ExAC_misZ : 2.00529193952475 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 200150 |
intron1-intron1Location : intron1-intron1 CytoBand : q43 Location2 : CDS Tx : NM_001195811 Tx_version : 2 Tx_start : 242082985 Tx_end : 242449468 Exon_count : 10 Overlapped_tx_length : 201 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 45431 Nearest_SS_type : 3' Intersect_start : 242393673 Intersect_end : 242393874 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
3ACMG_class : 3 AnnotSV_ranking_score : 0.15 AnnotSV_ranking_criteria : 1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5H (RE:MOSMO, +0.15): The patient phenotype is highly specific and consistent with what has been described in similar cases (EXOMISER_GENE_PHENO_SCORE > 0.7). |
DUPSV_type : DUP SV_length : 2000 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124903801 Closest_right : UQCRC2 |
.Location : . CytoBand : p12.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
MOSMO (EX=0.7661/RE=GH_enhancer); UQCRC2 (mor[...]RE_gene : MOSMO (EX=0.7661/RE=GH_enhancer); UQCRC2 (morbid/RE=EA_enhancer+GH_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15158812; dbVar:nssv15148703; dbVar:nssv15149904; dbVar:nssv15150639; nssv15151292; dbVar:nssv15158813; dbVar:nssv15158224; dbVar:nssv8639650; dbVar:nssv16254749; dbVar:nssv18330738; dbVar:nssv15147962; dbVar:nssv16216874; dbVar:nssv15145716; dbVar:nssv15152163; dbVar:nssv15141610; dbVar:nssv15137711; dbVar:nssv15152186; dbVar:nssv15132158; dbVar:nssv16207267; dbVar:nssv18330281; dbVar:nssv15132161; dbVar:nssv15145446; dbVar:nssv15145205 po_P_gain_coord : 16:11452-90228224; 16:19194-90207973; 16:35881-22430686; 16:35882-90088654; 16:38166-90096867; 16:38166-90208287; 16:52840-28316355; 16:2909279-30179272; 16:4330767-30434029; 16:4644893-29170820; 16:5755001-34995630; 16:14954895-28306843; 16:18144419-30165919; 16:19412794-30130899; 16:21350623-29202837; 16:21368308-29340505; 16:21463740-29249579; 16:21565482-29340505; 16:21565483-30165919; 16:21602184-29314373; 16:21928120-22428075; 16:21928120-22435412 po_P_gain_percent : 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.02; 0.03; 0.03; 0.03; 0.03; 0.02; 0.03; 0.40; 0.39 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr16:21804678-22564679; chr16:21930678-21966679; chr16:21934532-22029031 B_gain_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr16:21930678-21966679 dbVar; po_B_gain_someG_coord : chr16:21804678-22564679 dbVar; chr16:21934532-22029031 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 16:21932321-21937123; 16:21935359-21937119 Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 16:21937123-21938271 Repeat_type_right : L1M4c Gap_right : . GC_content_right : 0.330 |
|
3ACMG_class : 3 AnnotSV_ranking_score : -0.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2B (cf po_P_gain_source, TS, OMIM_morbid+0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV. 3A (0 gene, +0.00): 0–34 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DUPSV_type : DUP SV_length : 300 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124903857 Closest_right : ESPNP |
.Location : . CytoBand : p36.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15133500 po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:13619980-18466172 po_P_gain_percent : 0.00; 0.00; 0.00; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:660; DDD:663; DDD:698; dbVar; dgv1e203B_gain_source : DDD:660; DDD:663; DDD:698; dbVar; dgv1e203 B_gain_coord : 1:16487427-16935752; 1:16509860-16778024; 1:16518239-16924566; chr1:16522734-16725477; chr1:16524649-16798295; chr1:16525189-16761311; chr1:16527644-16725477; chr1:16527644-16761311; chr1:16681505-16687005; chr1:16682751-16725477; chr1:16682751-16798295; 1:16686147-16705084 B_gain_AFmax : 0.1172 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : 1:16509860-16778024 DDD:660; chr1:16522734-16725477 dbVar; chr1:16524649-16798295 dbVar; chr1:16527644-16725477 dbVar; chr1:16681505-16687005 dbVar; chr1:16682751-16725477 dbVar; 1:16686147-16705084 DDD:698; chr1:16686510-16761311 dbVar po_B_gain_someG_coord : 1:16487427-16935752 dgv1e203; 1:16518239-16924566 DDD:663; chr1:16524649-16686510 dbVar; chr1:16525189-16761311 dbVar; chr1:16527644-16761311 dbVar; chr1:16682751-16686510 dbVar; chr1:16682751-16798295 dbVar; chr1:16686510-16725477 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 1:16669564-16687097; 1:16669564-16687097; 1:16680659-16688784; 1:16680659-16688784; 1:16680842-16715804; 1:16681767-16687097 Repeat_coord_left : 1:16686413-16686450 Repeat_type_left : (TAT)n Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 1:16669564-16687097; 1:16669564-16687097; 1:16680659-16688784; 1:16680659-16688784; 1:16680842-16715804; 1:16681767-16687097 Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.545 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 50 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904031 Closest_right : LOC124904033 |
.Location : . CytoBand : q22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15132970 po_P_loss_coord : 17:36382249-83103577; 17:49974534-56807609 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:2_pbsv.DEL.1188_duplicate10; HPRC:pbsv.D[...]B_loss_source : CMRI:2_pbsv.DEL.1188_duplicate10; HPRC:pbsv.DEL.5067; dbVar B_loss_coord : chr17:54623551-54632336; chr17:54624453-54630794; 17:54627815-54627865; chr17:54627815-54627865; chr17:54627815-54627865 B_loss_AFmax : 0.5219 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr17:54624453-54630794 dbVar; chr17:54627815-54627865 HPRC:pbsv.DEL.5067; 17:54627816-54627865 1000g; po_B_loss_someG_coord : chr17:54623551-54632336 dbVar; 17:54627815-54627865 CMRI:2_pbsv.DEL.1188_duplicate10; chr17:54627815-54627865 dbVar; chr17:54627816-54627865 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.345 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.305 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 88 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105369183 Closest_right : LINC00273 |
.Location : . CytoBand : p11.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15141243 po_P_loss_coord : 16:28814842-35140636 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
1000g; dbVar; dgv50e203B_loss_source : 1000g; dbVar; dgv50e203 B_loss_coord : 16:31738133-34209701; chr16:34017304-34065875; 16:34017305-34065875 B_loss_AFmax : 0.0500 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr16:34017304-34065875 dbVar; po_B_loss_someG_coord : 16:31738133-34209701 dgv50e203; 16:34017305-34065875 1000g |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 16:33748621-34062003; 16:33829437-34062003; 16:34015080-34050158; 16:34015080-34062003; 16:34018673-34062003; 16:34018673-34062003; 16:34018700-34050115; 16:34022599-34050115; 16:34023255-34050152; 16:34023970-34050115; 16:34024870-34050110; 16:34026294-34050111; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34050115; 16:34026294-34062003; 16:34027214-34050116; 16:34027242-34061996; 16:34027242-34062003; 16:34027251-34062003; 16:34029379-34050115; 16:34032174-34050152; 16:34033569-34050115; 16:34033653-34050114; 16:34033653-34062003; 16:34033653-34062003; 16:34037759-34062003; 16:34038205-34050114; 16:34038576-34050146; 16:34041879-34050132; 16:34042824-34050132; 16:34045158-34050114; 16:34045158-34050114; 16:34045212-34050114; 16:34045394-34050116; 16:34045394-34050116; 16:34045394-34054868; 16:34045610-34062003; 16:34045712-34050114; 16:34046467-34062003; 16:34046467-34062003; 16:34046467-34062003; 16:34047172-34050114; 16:34047172-34050114; 16:34047172-34050114; 16:34047802-34050111; 16:34049239-34062003 Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.655 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 16:33748621-34062003; 16:33829437-34062003; 16:34015080-34050158; 16:34015080-34062003; 16:34018673-34062003; 16:34018673-34062003; 16:34023255-34050152; 16:34026294-34062003; 16:34027242-34061996; 16:34027242-34062003; 16:34027251-34062003; 16:34032174-34050152; 16:34033653-34062003; 16:34033653-34062003; 16:34037759-34062003; 16:34038576-34050146; 16:34045394-34054868; 16:34045610-34062003; 16:34046467-34062003; 16:34046467-34062003; 16:34046467-34062003; 16:34049239-34062003 Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.655 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 200 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124903463 Closest_right : GJD2 |
.Location : . CytoBand : q14 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16208403; dbVar:nssv15147319; dbVar:nssv15127755; dbVar:nssv15148236; dbVar:nssv15127602; dbVar:nssv16208407; dbVar:nssv15146365; dbVar:nssv15146268; dbVar:nssv17976656; dbVar:nssv16208948; dbVar:nssv18788041; dbVar:nssv15146269 po_P_loss_coord : 15:23319715-36569278; 15:23319715-38089582; 15:23377380-101981189; 15:25033870-37204304; 15:28917418-101981189; 15:31383250-35397757; 15:32326137-39394068; 15:32635804-40233825; 15:33517450-39735062; 15:33905288-38364053; 15:34233872-34794818; 15:34588016-39280404 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.04; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; gnomAD-SV_v3_DEL_chr15_6b875bcaB_loss_source : dbVar; gnomAD-SV_v3_DEL_chr15_6b875bca B_loss_coord : chr15:32070448-77618522; chr15:34704072-34739469 B_loss_AFmax : 0.6592 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr15:34704072-34739469 dbVar po_B_loss_someG_coord : chr15:32070448-77618522 gnomAD-SV_v3_DEL_chr15_6b875bca |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.405 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 15:34735963-34736395 Repeat_type_right : MLT1O Gap_right : . GC_content_right : 0.495 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 57 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : SLITRK6 Closest_right : LOC124903227 |
.Location : . CytoBand : q31.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161772; dbVar:nssv15161334; dbVar:nssv17969593; dbVar:nssv15161035; dbVar:nssv15161906; dbVar:nssv16208363; dbVar:nssv16208365; dbVar:nssv15161647; dbVar:nssv15172817; dbVar:nssv17957149; dbVar:nssv15161314; dbVar:nssv15161128; dbVar:nssv15161434; dbVar:nssv17969606; dbVar:nssv15161875; dbVar:nssv15161542; dbVar:nssv15136635; dbVar:nssv15120288; dbVar:nssv17969608; dbVar:nssv15149514; dbVar:nssv15140176; dbVar:nssv15134931; dbVar:nssv15158016 po_P_loss_coord : 13:18445863-114327173; 13:40942299-114340331; 13:41883706-91144444; 13:44967524-92738168; 13:46968081-87381985; 13:50938468-90978857; 13:52687879-114342258; 13:52977166-109198303; 13:56484301-94032361; 13:59000627-88757773; 13:66320999-87855429; 13:71439660-87369304; 13:73885259-92829041; 13:75000525-87132576; 13:76368469-90007867; 13:77061781-92460406; 13:78304803-91283940; 13:78349127-94701844; 13:78795878-114342258; 13:79998364-108067180; 13:81276957-102212324; 13:84005265-92784013; 13:84452425-91808893 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.911_duplicate6; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.911_duplicate6; HPRC:pbsv.DEL.4436; dbVar B_loss_coord : chr13:85927865-86186189; 13:86026500-86026557; chr13:86026500-86026557; chr13:86026500-86026557 B_loss_AFmax : 0.8566 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 13:86026500-86026557 CMRI:0_pbsv.DEL.911_duplicate6; chr13:86026500-86026557 dbVar po_B_loss_someG_coord : chr13:85927865-86186189 dbVar; chr13:86026500-86026557 HPRC:pbsv.DEL.4436 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 13:86026142-86026503; 13:86026505-86026534 Repeat_type_left : L1PB1; (AT)n Gap_left : . GC_content_left : 0.280 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 13:86026142-86026503; 13:86026505-86026534 Repeat_type_right : L1PB1; (AT)n Gap_right : . GC_content_right : 0.255 |
|
1ACMG_class : 1 AnnotSV_ranking_score : -1.6 AnnotSV_ranking_criteria : 1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements. 2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region. 2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV 3A (0 gene, +0.00): 0–24 genes wholly or partially included 5F (+0.00): Inheritance information is unavailable or uninformative. |
DELSV_type : DEL SV_length : 66 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC101928563 Closest_right : LOC107984362 |
.Location : . CytoBand : p12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15150227; dbVar:nssv15147690; dbVar:nssv15161504; dbVar:nssv15136152 po_P_loss_coord : 11:11814023-118502397; 11:27567014-41749242; 11:30593581-40584589; 11:35663579-46959820; 11:36007378-40318124 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:0_pbsv.DEL.629_duplicate5; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.629_duplicate5; HPRC:pbsv.DEL.3363; dbVar B_loss_coord : chr11:38927545-39202226; chr11:38988727-38989256; 11:38989189-38989255; chr11:38989189-38989255; chr11:38989189-38989256 B_loss_AFmax : 0.8028 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr11:38988727-38989256 dbVar; chr11:38989189-38989255 dbVar; chr11:38989192-38989255 dbVar; chr11:38989192-39046239 dbVar po_B_loss_someG_coord : chr11:38927545-39202226 dbVar; 11:38989189-38989255 CMRI:0_pbsv.DEL.629_duplicate5; chr11:38989189-38989256 HPRC:pbsv.DEL.3363; chr11:38989192-38989255 gnomAD-SV_v3_DEL_chr11_5d268c44 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:38989186-38989245; 11:38989246-38989270; 11:38989272-38989500 Repeat_type_left : (TTCC)n; (T)n; AluJb Gap_left : . GC_content_left : 0.370 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:38989186-38989245; 11:38989246-38989270; 11:38989272-38989500 Repeat_type_right : (TTCC)n; (T)n; AluJb Gap_right : . GC_content_right : 0.455 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : . Gene_count : 181 |
fullAnnotation_mode : full |
SOX4; LOC124901483; CASC15; LOC124901274; LOC105374970; [...181genes]Gene_name : SOX4; LOC124901483; CASC15; LOC124901274; LOC105374970; NBAT1; LOC124901275; PRL; LOC105374971; HDGFL1; LINC03005; LOC105374973; LOC102724736; LOC105374974; LOC105374976; LOC102724749; LOC105374975; LOC124901276; NRSN1; LOC124900220; DCDC2; KAAG1; MRS2; GPLD1; ALDH5A1; LOC124901277; KIAA0319; TDP2; ACOT13; LOC124901279; LOC124901278; C6orf62; LINC02828; GMNN; LOC124901280; ARMH2; RIPOR2; LOC105374981; LOC102724765; CMAHP; LOC124901282; LOC107986530; LOC124901283; LOC101928663; CARMIL1; LOC124901281; SCGN; LOC124901284; SLC17A1; H2AC1; H2BC1; H2AC2P; SLC17A4; LOC124901285; SLC17A3; SLC17A2; TRIM38; LINC02980; H1-1; H3C1; H4C1; H4C2; H3C2; H2AC4; H2BC3; H3C3; H1-2; HFE-AS1; HFE; H4C3; H1-6; H2BC4; H2AC6; H1-4; H2BC5; H2BC6-AS1; H2BC6; H4C4; H3C4; H2AC7; H2BC7; H4C5; H2BC8; H2AC8; H3C6; H1-3; H4C6; H4C7; H3C7; H2BC9; LOC105374986; H3C8; H2BC10; H4C8; LOC124901287; LOC101928743; LOC124901288; BTN3A2; BTN2A2; BTN3A1; BTN2A3P; BTN3A3; BTN2A1; LOC285819; LOC107986583; BTN1A1; HCG11; HMGN4; LOC105374988; ABT1; LOC105374989; ZNF322; LOC102724851; LOC105374991; LOC105374992; LOC124901289; LOC124901290; GUSBP2; LINC00240; LARRPM; H2BC11; H2AC11; H2BC12; H4C9; H2AC12; MIR3143; LOC124901293; PRSS16; POM121L2; LOC105375107; VN1R10P; ZNF204P; ZNF391; ZNF184; LOC105375001; LOC124901292; LINC01012; LOC124901291; LOC100131289; H2BC13; H2AC13; H3C10; H2AC14; H2BC14; H4C11; H4C12; H2AC15; H2BC15; H2AC16; H1-5; H3C11; H4C13; H3C12; H2AC17; H2BC17; OR2B2; OR2B6; LOC124901506; OR2B8P; ZNF165; ZSCAN12P1; ZSCAN16-AS1; ZSCAN16; ZKSCAN8; ZKSCAN8P1; TOB2P1; ZSCAN9; ZKSCAN4; NKAPL; ZSCAN26; PGBD1; ZSCAN31; ZKSCAN3; ZSCAN12; LOC105374998; ZSCAN23; LOC124901294; LOC124901295; GPX6; GPX5; LOC107986586; LOEUF_bin : 0 GnomAD_pLI : 9.8336e-01 ExAC_pLI : 9.4656e-01 HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : 1.3519700358636 ExAC_delZ : 1.22041569714049 ExAC_dupZ : 1.32156943181946 ExAC_synZ : 2.54163041946051 ExAC_misZ : 3.92864771950973 Closest_left : LOC107986579 Closest_right : SCAND3 |
.Location : . CytoBand : p22.3-p22.1 |
0.8416Exomiser_gene_pheno_score : 0.8416 |
CPhenoGenius_specificity : C |
MAF (EX=0.8595/morbid/RE=mTL_miRNA); CREBBP ([...]RE_gene : MAF (EX=0.8595/morbid/RE=mTL_miRNA); CREBBP (HI=3/EX=0.8187/morbid/RE=mTL_miRNA); TFAP2A (EX=0.7962/morbid/RE=mTL_miRNA); NRAS (EX=0.7411/morbid/RE=mTL_miRNA); PLXND1 (EX=0.7246/morbid/RE=mTL_miRNA); RREB1 (EX=0.8300/RE=mTL_miRNA); MATR3 (morbid/RE=mTL_miRNA); ARID1B (HI=3/morbid/RE=mTL_miRNA); SATB1 (morbid/RE=mTL_miRNA); SAR1B (morbid/RE=mTL_miRNA); BACH1 (morbid/RE=mTL_miRNA); RNF6 (morbid/RE=mTL_miRNA); KMT2A (HI=3/morbid/RE=mTL_miRNA); ITCH (morbid/RE=mTL_miRNA); ATP9A (morbid/RE=mTL_miRNA); TMEM218 (morbid/RE=mTL_miRNA); AMD1 (morbid/RE=mTL_miRNA); ZNF711 (morbid/RE=mTL_miRNA); GDAP2 (morbid/RE=mTL_miRNA); FLVCR1 (morbid/RE=mTL_miRNA); STX1B (morbid/RE=mTL_miRNA); KLHL15 (morbid/RE=mTL_miRNA); HNRNPDL (morbid/RE=mTL_miRNA); PTPN14 (morbid/RE=mTL_miRNA); EIF4A2 (morbid/RE=mTL_miRNA); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:21593751-21598619; 6:22519455-25226331; 6:24171755-24383292; 6:24301716-24301846; 6:24494969-24537207; 6:24502504-24515330; 6:24504850-24533712; 6:24504860-24533712; 6:24521265-24523718; 6:24527978-24528186; 6:24532100-24533712; 6:24649979-24666899; 6:24779846-24786099; 6:24839344-25042168; 6:25912754-25930691; 6:26008032-26168002; 6:26087429-26098343; 6:26103933-26104337; 6:26156329-26157115; 6:26204610-26205021; 6:27139282-27139678 P_loss_source : dbVar:nssv15120097; dbVar:nssv15143999; dbVar:nssv15147977; dbVar:nssv16215129; dbVar:nssv17171864; dbVar:nssv17957216; dbVar:nssv17973500; dbVar:nssv17974120; dbVar:nssv18787468; morbid:ALDH5A1; morbid:DCDC2; morbid:GMNN; morbid:H1-4; morbid:H4C3; morbid:H4C5; morbid:H4C9; morbid:HFE; morbid:RIPOR2; morbid:SLC17A2; morbid:SOX4; morbid:TDP2 P_loss_phen : ?Deafness, AR 104, 616515 (3) AR; Deafness, AD 21, 607017 (3) AD; ?Deafness, AR 66, 610212 (3) AR; Nephronophthisis 19, 616217 (3) AR; Sclerosing cholangitis, neonatal, 617394 (3) AR; Coffin-Siris syndrome 10, 618506 (3) AD; Hemochromatosis, type 1, 235200 (3) AR; Meier-Gorlin syndrome 6, 616835 (3) AD; Rahman syndrome, 617537 (3) AD; Spinocerebellar ataxia, AR 23, 616949 (3) AR; Succinic semialdehyde dehydrogenase deficiency, 271980 (3) AR; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1, 619758 (3) AD; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3, 619950 (3) AD; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4, 619951 (3) AD P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15154409; dbVar:nssv15772668; dbVar:nssv15161578; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15124407; nssv15153178; dbVar:nssv18786303; dbVar:nssv15148873 po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156975-21955733; 6:156975-23221393; 6:156975-46789291; 6:156976-170610394; 6:165633-170610382; 6:168776-24023006; 6:820001-21699769; 6:3224311-30657190 po_P_gain_percent : 4.10; 4.10; 1.78; 7.17; 15.01; 4.11; 4.11; 10.29; 0.63; 25.52 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18329282; dbVar:nssv15151127; dbVar:nssv15773065; dbVar:nssv17955655 po_P_loss_coord : 6:12005398-22849418; 6:13693621-24225287; 6:13909895-21999975; 6:28037235-31715408 po_P_loss_percent : 11.82; 25.24; 5.35; 14.41 |
157P_snvindel_nb : 157 P_snvindel_phen : ALDH5A1-related_condition; Abdominal_pain; Abnormal_peripheral_nervous_system_morphology; Abnormality_of_iron_homeostasis; Abnormality_of_the_male_genitalia; Abnormality_of_the_nervous_system; Alzheimer_disease; Alzheimer_disease_type_1; Atypical_behavior; Autosomal_recessive_nonsyndromic_hearing_loss_66; Bronze_diabetes; Cardiomyopathy; Cerebellar_ataxia; Chylomicron_retention_disease; Coffin-Siris_syndrome_10; Cutaneous_photosensitivity; Cystic_fibrosis; DCDC2-related_condition; Dyslexia,_susceptibility_to,_2; Familial_porphyria_cutanea_tarda; H1-4-related_condition; HFE-related_condition; HFE-related_disorder; HIST1H1E-related_neurodevelopmental_disorder_with_multiple_anomalies; HIST1H4C-associated_disorder; Hemochromatosis_type_1; Hereditary_cancer-predisposing_syndrome; Hereditary_hemochromatosis; Inborn_genetic_diseases; Isolated_neonatal_sclerosing_cholangitis; Juvenile_hemochromatosis; Meier-Gorlin_syndrome; Meier-Gorlin_syndrome_6; Microvascular_complications_of_diabetes,_susceptibility_to,_7; Nephronophthisis_19; Neurodevelopmental_disorder; Pain; Peripheral_neuropathy; Porphyrinuria; Rahman_syndrome; See_cases; Spinocerebellar_ataxia,_autosomal_recessive_23; Succinate-semialdehyde_dehydrogenase_deficiency; Tessadori-van_Haaften_neurodevelopmental_syndrome_1; Transferrin_serum_level_quantitative_trait_locus_2; Variegate_porphyria; not_specified |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : 6:21597745-21597803 DDD:19968; chr6:21656406-21656458 gnomAD-SV_v3_DUP_chr6_52cbc0e6; chr6:21701630-21705101 dbVar; chr6:21804045-21804743 dbVar; chr6:21906047-21906115 dbVar; chr6:22027739-22027804 dbVar; 6:22052759-22053316 DDD:19991; chr6:22169689-22174764 dbVar; chr6:22243966-22244053 dbVar; chr6:22270909-22331689 dbVar; 6:22669581-22669581 1000g; chr6:22731945-22731973 HPRC:pbsv.INS.DUP.1848; chr6:22799840-22799914 dbVar; chr6:23129361-23129486 dbVar; chr6:23299729-23328126 dbVar; chr6:23356143-23356548 dbVar; chr6:23399055-23399106 gnomAD-SV_v3_DUP_chr6_1334b747; chr6:23399775-23399852 dbVar; chr6:23435435-23456229 dbVar; chr6:23567556-23567892 dbVar; 6:23685760-23686087 1000g... po_B_gain_someG_coord : chr6:21537189-21570618 dbVar; 6:21637616-21637616 1000g; 6:21656407-21656457 CMRI:140_pbsv.INS.DUP.398_duplicate2; chr6:21720985-21722119 dbVar; chr6:21889729-21896194 dbVar; chr6:22027675-22027766 dbVar; chr6:22050844-22054302 dbVar; 6:22089944-22089944 1000g; 6:22227244-22227525 1000g; chr6:22266646-22267437 dbVar; chr6:22306056-22354438 dbVar; chr6:22731944-22731999 gnomAD-SV_v3_DUP_chr6_ce88f954; 6:22782421-22782744 1000g; chr6:23101391-23103935 dbVar; chr6:23224114-23224187 dbVar; chr6:23300138-23300512 dbVar; chr6:23381315-23381407 dbVar; chr6:23399056-23399105 HPRC:pbsv.INS.DUP.1890; chr6:23399777-23399892 gnomAD-SV_v3_DUP_chr6_c1328e90; chr6:23544036-23544091 dbVar; chr6:23569267-23569955 dbVar... po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr6:21627116-21627282 dbVar; chr6:21637757-21637785 HPRC:pbsv.DEL.1773; chr6:21652256-21661271 dbVar; chr6:21675564-21683456 dbVar; chr6:21700262-21700322 HPRC:pbsv.DEL.1778; chr6:21716177-21721118 dbVar; chr6:21766233-21768137 dbVar; chr6:21770830-21770852 HPRC:pbsv.DEL.1780; chr6:21813046-21813097 dbVar; chr6:21825572-21834169 dbVar; chr6:21825740-21825768 HPRC:pbsv.DEL.1788; chr6:21848225-21848684 dbVar; chr6:21850182-21850464 dbVar; 6:21851439-21851693 CMRI:0_pbsv.DEL.367_duplicate2; chr6:21851617-21851762 HPRC:pbsv.DEL.1796; 6:21851674-21851770 CMRI:2_pbsv.DEL.457_duplicate3; chr6:21852107-21852194 dbVar; chr6:21877728-21878489 dbVar; chr6:21889729-21896194 dbVar; chr6:21890041-21896531 dbVar; chr6:21946014-21947633 dbVar... po_B_loss_someG_coord : chr6:21615494-21615514 HPRC:pbsv.DEL.1768; chr6:21631902-21631926 HPRC:pbsv.DEL.1771; chr6:21640638-21641489 dbVar; chr6:21674515-21674621 dbVar; 6:21700262-21700312 CMRI:0_pbsv.DEL.365_duplicate2; chr6:21700274-21700969 dbVar; chr6:21744256-21744377 dbVar; chr6:21770726-21770807 dbVar; chr6:21792590-21792618 HPRC:pbsv.DEL.1783; chr6:21822605-21828571 dbVar; chr6:21825585-21834264 dbVar; chr6:21826337-21826593 dbVar; chr6:21848461-21848564 dbVar; 6:21851387-21851527 CMRI:2_pbsv.DEL.456_duplicate3; chr6:21851439-21851695 HPRC:pbsv.DEL.1795; 6:21851640-21851814 CMRI:1_pbsv.DEL.365_duplicate1; chr6:21851674-21851770 HPRC:pbsv.DEL.1797; chr6:21866900-21867439 dbVar; chr6:21880150-21880426 dbVar; chr6:21889969-21901769 dbVar; chr6:21934419-21934657 dbVar... |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:21566873-21567263; 6:21567264-21567299; 6:21567302-21567579 Repeat_type_left : L1MA3; (TTTCTTTTT)n; AluSx1 Gap_left : . GC_content_left : 0.390 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:28566946-28567405 Repeat_type_right : LTR2 Gap_right : . GC_content_right : 0.435 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
GMNNGene_name : GMNN; LOEUF_bin : 4 GnomAD_pLI : 1.1490e-01 ExAC_pLI : 6.0745e-01 HI : . TS : . DDD_HI_percent : 17.84 ACMG : . ExAC_cnvZ : 1.03332726359373 ExAC_delZ : 0.59386664449777 ExAC_dupZ : 0.86973976697088 ExAC_synZ : -0.0713123598307586 ExAC_misZ : -0.0829965924165746 GenCC_disease : Meier-Gorlin syndrome; Meier-Gorlin syndrome 6 GenCC_moi : AD GenCC_classification : Strong; Supportive GenCC_pmid : 26637980; 26637980[PMID] NCBI_gene_ID : 51053 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_001251989 Tx_version : 2 Tx_start : 24774936 Tx_end : 24786099 Exon_count : 7 Overlapped_tx_length : 11163 Overlapped_CDS_length : 630 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24774936 Intersect_end : 24786099 |
0.8416Exomiser_gene_pheno_score : 0.8416 Human_pheno_evidence : Brachydactyly; Clinodactyly of the 5th finger; Craniosynostosis; Ear-patella-short stature syndrome Mouse_pheno_evidence : Craniosynostosis; abnormal lens morphology Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Craniosynostosis PhenoGenius_score : 0.36 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:24779846-24786099 P_loss_source : morbid:GMNN P_loss_phen : Meier-Gorlin syndrome 6, 616835 (3) AD P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Meier-Gorlin_syndrome; Meier-Gorlin_syndrome_6 |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
SOX4Gene_name : SOX4; LOEUF_bin : 1 GnomAD_pLI : 9.2656e-01 ExAC_pLI : 3.8401e-01 HI : . TS : . DDD_HI_percent : 24.67 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.90188432026894 ExAC_misZ : 3.92864771950973 GenCC_disease : Coffin-Siris syndrome; Coffin-Siris syndrome 10 GenCC_moi : AD GenCC_classification : Moderate; Strong; Supportive GenCC_pmid : 29079881; 30661722[PMID]; 30661772 NCBI_gene_ID : 6659 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_003107 Tx_version : 3 Tx_start : 21593750 Tx_end : 21598619 Exon_count : 1 Overlapped_tx_length : 4869 Overlapped_CDS_length : 1425 Overlapped_CDS_percent : 34 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 21593750 Intersect_end : 21598619 |
0.6210Exomiser_gene_pheno_score : 0.6210 Human_pheno_evidence : Brachydactyly; Clinodactyly of the 5th finger; Coffin-Siris syndrome 10; Craniosynostosis; Trigonocephaly Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.11 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:21593751-21598619 P_loss_source : morbid:SOX4 P_loss_phen : Coffin-Siris syndrome 10, 618506 (3) AD P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Coffin-Siris_syndrome_10 |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
H4C9Gene_name : H4C9; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : Tessadori-Van Haaften neurodevelopmental syndrome 4 GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 8294 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003495 Tx_version : 3 Tx_start : 27139281 Tx_end : 27139678 Exon_count : 1 Overlapped_tx_length : 397 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 84 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27139281 Intersect_end : 27139678 |
0.6871Exomiser_gene_pheno_score : 0.6871 Human_pheno_evidence : Bicoronal synostosis; Brachydactyly; Craniosynostosis; Sandal gap; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4 Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:27139282-27139678 P_loss_source : morbid:H4C9 P_loss_phen : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4, 619951 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
SLC17A2Gene_name : SLC17A2; LOEUF_bin : 4 GnomAD_pLI : 1.4228e-06 ExAC_pLI : 4.6699e-03 HI : . TS : . DDD_HI_percent : 64.34 ACMG : . ExAC_cnvZ : -0.311826261774721 ExAC_delZ : -1.28274364523141 ExAC_dupZ : 0.39315990642616 ExAC_synZ : 0.0867792620670347 ExAC_misZ : 0.715959799215346 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10246 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_001286123 Tx_version : 3 Tx_start : 25912753 Tx_end : 25930691 Exon_count : 12 Overlapped_tx_length : 17938 Overlapped_CDS_length : 1437 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25912753 Intersect_end : 25930691 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : yes OMIM_morbid_candidate : yes |
0.5636Exomiser_gene_pheno_score : 0.5636 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; delayed bone ossification Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.06 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:25912754-25930691 P_loss_source : morbid:SLC17A2 P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
H4C5Gene_name : H4C5; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : Tessadori-Van Haaften neurodevelopmental syndrome 3 GenCC_moi : AD GenCC_classification : Strong GenCC_pmid : . NCBI_gene_ID : 8367 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003545 Tx_version : 4 Tx_start : 26204609 Tx_end : 26205021 Exon_count : 1 Overlapped_tx_length : 412 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 82 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26204609 Intersect_end : 26205021 |
0.5951Exomiser_gene_pheno_score : 0.5951 Human_pheno_evidence : Brachycephaly; Brachydactyly; Craniosynostosis; Long fingers; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3 Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:26204610-26205021 P_loss_source : morbid:H4C5 P_loss_phen : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3, 619950 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26196282-26207207 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:26192794-26212452; chr6:26196282-26207207 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
TDP2Gene_name : TDP2; LOEUF_bin : 6 GnomAD_pLI : 1.1340e-08 ExAC_pLI : 1.3701e-04 HI : . TS : . DDD_HI_percent : 47.23 ACMG : . ExAC_cnvZ : 0.575521096965466 ExAC_delZ : 0.684455652614797 ExAC_dupZ : 0.371069669929754 ExAC_synZ : -0.939154816982299 ExAC_misZ : 0.189303950806346 GenCC_disease : spinocerebellar ataxia, autosomal recessive 23 GenCC_moi : AR GenCC_classification : Strong; Supportive GenCC_pmid : 24658003; 24658003[PMID]; 26284228; 28397838 NCBI_gene_ID : 51567 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_016614 Tx_version : 3 Tx_start : 24649978 Tx_end : 24666899 Exon_count : 7 Overlapped_tx_length : 16921 Overlapped_CDS_length : 1089 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24649978 Intersect_end : 24666899 |
0.5364Exomiser_gene_pheno_score : 0.5364 Human_pheno_evidence : Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; Brachycephaly; Craniosynostosis Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:24649979-24666899 P_loss_source : morbid:TDP2 P_loss_phen : Spinocerebellar ataxia, AR 23, 616949 (3) AR P_loss_hpo : . |
9P_snvindel_nb : 9 P_snvindel_phen : Cerebellar_ataxia; Inborn_genetic_diseases; Spinocerebellar_ataxia,_autosomal_recessive_23 |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
H4C3Gene_name : H4C3; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : Tessadori-van Haaften neurodevelopmental syndrome 1 GenCC_moi : AD GenCC_classification : Moderate GenCC_pmid : . NCBI_gene_ID : 8364 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003542 Tx_version : 4 Tx_start : 26103932 Tx_end : 26104337 Exon_count : 1 Overlapped_tx_length : 405 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 80 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26103932 Intersect_end : 26104337 |
0.4904Exomiser_gene_pheno_score : 0.4904 Human_pheno_evidence : Brachydactyly; Oligodactyly; Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1 Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:26103933-26104337 P_loss_source : morbid:H4C3 P_loss_phen : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1, 619758 (3) AD P_loss_hpo : . |
3P_snvindel_nb : 3 P_snvindel_phen : HIST1H4C-associated_disorder; Tessadori-van_Haaften_neurodevelopmental_syndrome_1 |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26103098-26124338 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
HFEGene_name : HFE; LOEUF_bin : 6 GnomAD_pLI : 2.5587e-08 ExAC_pLI : 8.4970e-07 HI : . TS : . DDD_HI_percent : 74.41 ACMG : ACMG ExAC_cnvZ : -0.307543785884328 ExAC_delZ : 0.647856723754074 ExAC_dupZ : -0.711583441632016 ExAC_synZ : 0.811058153381927 ExAC_misZ : 0.494683372825118 GenCC_disease : hemochromatosis type 1 GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 20301613[PMID]; 20471131; 20800508; 27518069; 8696333 NCBI_gene_ID : 3077 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_000410 Tx_version : 4 Tx_start : 26087428 Tx_end : 26098343 Exon_count : 6 Overlapped_tx_length : 10915 Overlapped_CDS_length : 1047 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26087428 Intersect_end : 26098343 |
0.4213Exomiser_gene_pheno_score : 0.4213 Human_pheno_evidence : Brachydactyly; Stiff interphalangeal joints; Symptomatic form of HFE-related hemochromatosis Mouse_pheno_evidence : Craniosynostosis; osteoporosis Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:26087429-26098343 P_loss_source : morbid:HFE P_loss_phen : Hemochromatosis, type 1, 235200 (3) AR P_loss_hpo : . |
22P_snvindel_nb : 22 P_snvindel_phen : Abdominal_pain; Abnormal_peripheral_nervous_system_morphology; Abnormality_of_iron_homeostasis; Abnormality_of_the_male_genitalia; Abnormality_of_the_nervous_system; Alzheimer_disease; Alzheimer_disease_type_1; Atypical_behavior; Bronze_diabetes; Cardiomyopathy; Cutaneous_photosensitivity; Cystic_fibrosis; Familial_porphyria_cutanea_tarda; HFE-related_condition; HFE-related_disorder; Hemochromatosis_type_1; Hereditary_cancer-predisposing_syndrome; Hereditary_hemochromatosis; Inborn_genetic_diseases; Juvenile_hemochromatosis; Microvascular_complications_of_diabetes,_susceptibility_to,_7; Pain; Peripheral_neuropathy; Porphyrinuria; Transferrin_serum_level_quantitative_trait_locus_2; Variegate_porphyria; not_specified |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
H1-4Gene_name : H1-4; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : 0 TS : 0 DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : Rahman syndrome; syndromic intellectual disability GenCC_moi : AD GenCC_classification : Definitive; Strong GenCC_pmid : 25081361; 28475857; 29672823; 31400068; 31447100 NCBI_gene_ID : 3008 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_005321 Tx_version : 3 Tx_start : 26156328 Tx_end : 26157115 Exon_count : 1 Overlapped_tx_length : 787 Overlapped_CDS_length : 660 Overlapped_CDS_percent : 91 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26156328 Intersect_end : 26157115 |
0.3308Exomiser_gene_pheno_score : 0.3308 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; increased bone mineral content Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : Craniosynostosis PhenoGenius_score : 0.13 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:26156329-26157115 P_loss_source : morbid:H1-4 P_loss_phen : Rahman syndrome, 617537 (3) AD P_loss_hpo : . |
23P_snvindel_nb : 23 P_snvindel_phen : H1-4-related_condition; HIST1H1E-related_neurodevelopmental_disorder_with_multiple_anomalies; Inborn_genetic_diseases; Neurodevelopmental_disorder; Rahman_syndrome |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26151399-26158981 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:26151399-26158981 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
PGBD1Gene_name : PGBD1; LOEUF_bin : 4 GnomAD_pLI : 4.7252e-10 ExAC_pLI : 1.4674e-05 HI : . TS : . DDD_HI_percent : 73.73 ACMG : . ExAC_cnvZ : 0.360283445545304 ExAC_delZ : -0.0221723076552216 ExAC_dupZ : 0.440978520722024 ExAC_synZ : -0.117785848311057 ExAC_misZ : 0.0481800856661226 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 84547 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_001184743 Tx_version : 2 Tx_start : 28281571 Tx_end : 28302549 Exon_count : 7 Overlapped_tx_length : 20978 Overlapped_CDS_length : 2430 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28281571 Intersect_end : 28302549 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6233Exomiser_gene_pheno_score : 0.6233 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; anophthalmia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
RIPOR2Gene_name : RIPOR2; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : autosomal recessive nonsyndromic hearing loss 104; hearing loss, autosomal recessive; nonsyndromic genetic hearing loss GenCC_moi : AR GenCC_classification : Limited; Moderate; Supportive GenCC_pmid : 188020; 24958875; 24958875[PMID]; 250984; 28383030; 30280293; 32631815 NCBI_gene_ID : 9750 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : XM_011515012 Tx_version : 2 Tx_start : 24804283 Tx_end : 25042168 Exon_count : 23 Overlapped_tx_length : 237885 Overlapped_CDS_length : 3309 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24804283 Intersect_end : 25042168 |
0.3236Exomiser_gene_pheno_score : 0.3236 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal cochlear hair cell stereociliary bundle morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:24839344-25042168 P_loss_source : morbid:RIPOR2 P_loss_phen : ?Deafness, AR 104, 616515 (3) AR; Deafness, AD 21, 607017 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
DCDC2Gene_name : DCDC2; LOEUF_bin : 6 GnomAD_pLI : 5.6611e-10 ExAC_pLI : 1.0485e-05 HI : . TS : . DDD_HI_percent : 48.98 ACMG : . ExAC_cnvZ : 0.061979448701925 ExAC_delZ : 0.344948452443782 ExAC_dupZ : -0.142812969099758 ExAC_synZ : 0.368592258865481 ExAC_misZ : 0.945156673003412 GenCC_disease : Senior-Boichis syndrome; autosomal recessive nonsyndromic hearing loss 66; ciliopathy; hearing loss, autosomal recessive; isolated neonatal sclerosing cholangitis; nephronophthisis 19; nonsyndromic genetic hearing loss GenCC_moi : AR GenCC_classification : Definitive; Limited; Strong; Supportive GenCC_pmid : 16244493; 22558177; 25130614; 25557784; 25557784[PMID]; 25601850; 25601850[PMID]; 27319779; 27319779_27469900[PMID]; 27469900; 31821705 NCBI_gene_ID : 51473 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_001195610 Tx_version : 2 Tx_start : 24171754 Tx_end : 24383292 Exon_count : 11 Overlapped_tx_length : 211538 Overlapped_CDS_length : 1431 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24171754 Intersect_end : 24383292 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
CPhenoGenius_specificity : C PhenoGenius_phenotype : . PhenoGenius_score : 0.12 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:24171755-24383292; 6:24301716-24301846 P_loss_source : dbVar:nssv16215129; morbid:DCDC2 P_loss_phen : ?Deafness, AR 66, 610212 (3) AR; Nephronophthisis 19, 616217 (3) AR; Sclerosing cholangitis, neonatal, 617394 (3) AR P_loss_hpo : . |
13P_snvindel_nb : 13 P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_66; Chylomicron_retention_disease; DCDC2-related_condition; Dyslexia,_susceptibility_to,_2; Isolated_neonatal_sclerosing_cholangitis; Nephronophthisis_19 |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ALDH5A1Gene_name : ALDH5A1; LOEUF_bin : 5 GnomAD_pLI : 3.0504e-07 ExAC_pLI : 2.9043e-03 HI : 30 TS : 0 DDD_HI_percent : 66.91 ACMG : . ExAC_cnvZ : 0.280707874799752 ExAC_delZ : -0.522020677562331 ExAC_dupZ : 0.759118971473947 ExAC_synZ : 0.955192228684417 ExAC_misZ : 0.696433998764486 GenCC_disease : succinic semialdehyde dehydrogenase deficiency GenCC_moi : AR GenCC_classification : Definitive; Strong; Supportive GenCC_pmid : 11544478; 14635103; 16542398; 19172412; 20301374; 20301374[PMID]; 22437753; 25431891; 26268900; 9683595 NCBI_gene_ID : 7915 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_170740 Tx_version : 1 Tx_start : 24494968 Tx_end : 24537207 Exon_count : 11 Overlapped_tx_length : 42239 Overlapped_CDS_length : 1647 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24494968 Intersect_end : 24537207 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:24494969-24537207; 6:24502504-24515330; 6:24504850-24533712; 6:24504860-24533712; 6:24521265-24523718; 6:24527978-24528186; 6:24532100-24533712 P_loss_source : dbVar:nssv15120097; dbVar:nssv15143999; dbVar:nssv17171864; dbVar:nssv17973500; dbVar:nssv17974120; dbVar:nssv18787468; morbid:ALDH5A1 P_loss_phen : Succinic semialdehyde dehydrogenase deficiency, 271980 (3) AR P_loss_hpo : . |
83P_snvindel_nb : 83 P_snvindel_phen : ALDH5A1-related_condition; Inborn_genetic_diseases; See_cases; Succinate-semialdehyde_dehydrogenase_deficiency; not_specified |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
GPX6Gene_name : GPX6; LOEUF_bin : 8 GnomAD_pLI : 2.5820e-06 ExAC_pLI : 3.1376e-05 HI : . TS : . DDD_HI_percent : 76.81 ACMG : . ExAC_cnvZ : -1.05518340389482 ExAC_delZ : -0.509412956199683 ExAC_dupZ : -1.2221048935749 ExAC_synZ : 1.01105673733967 ExAC_misZ : -0.141267724873126 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 257202 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_182701 Tx_version : 1 Tx_start : 28503295 Tx_end : 28515793 Exon_count : 5 Overlapped_tx_length : 12498 Overlapped_CDS_length : 666 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28503295 Intersect_end : 28515793 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3920Exomiser_gene_pheno_score : 0.3920 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003523 Tx_version : 3 Tx_start : 26183760 Tx_end : 26184230 Exon_count : 1 Overlapped_tx_length : 470 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 87 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26183760 Intersect_end : 26184230 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3831Exomiser_gene_pheno_score : 0.3831 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003525 Tx_version : 3 Tx_start : 26272930 Tx_end : 26273412 Exon_count : 1 Overlapped_tx_length : 482 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 87 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26272930 Intersect_end : 26273412 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3831Exomiser_gene_pheno_score : 0.3831 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_138720 Tx_version : 2 Tx_start : 26158120 Tx_end : 26171349 Exon_count : 2 Overlapped_tx_length : 13229 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 97 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26158120 Intersect_end : 26171349 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3831Exomiser_gene_pheno_score : 0.3831 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003518 Tx_version : 4 Tx_start : 26216199 Tx_end : 26216688 Exon_count : 1 Overlapped_tx_length : 489 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 89 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26216199 Intersect_end : 26216688 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3831Exomiser_gene_pheno_score : 0.3831 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal eye morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : NR_002174 Tx_version : 2 Tx_start : 25081066 Tx_end : 25137823 Exon_count : 13 Overlapped_tx_length : 56757 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25081066 Intersect_end : 25137823 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.3707Exomiser_gene_pheno_score : 0.3707 Human_pheno_evidence : . Mouse_pheno_evidence : Craniosynostosis; abnormal semicircular canal morphology Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
SLC17A3Gene_name : SLC17A3; LOEUF_bin : 8 GnomAD_pLI : 4.9259e-22 ExAC_pLI : 9.8821e-14 HI : . TS : . DDD_HI_percent : 89.52 ACMG : . ExAC_cnvZ : -0.176800179455056 ExAC_delZ : -1.30354506584814 ExAC_dupZ : 0.686146923083172 ExAC_synZ : -0.122368874197925 ExAC_misZ : -1.67913206147792 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10786 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_001098486 Tx_version : 2 Tx_start : 25844855 Tx_end : 25874243 Exon_count : 13 Overlapped_tx_length : 29388 Overlapped_CDS_length : 1497 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25844855 Intersect_end : 25874243 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
H4C11Gene_name : H4C11; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : Tessadori-van Haaften neurodevelopmental syndrome 2 GenCC_moi : AD GenCC_classification : Limited GenCC_pmid : . NCBI_gene_ID : 8363 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_021968 Tx_version : 4 Tx_start : 27824091 Tx_end : 27824480 Exon_count : 1 Overlapped_tx_length : 389 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 87 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27824091 Intersect_end : 27824480 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:27823835-27828656 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
C6orf62Gene_name : C6orf62; LOEUF_bin : 0 GnomAD_pLI : 9.8336e-01 ExAC_pLI : 9.4656e-01 HI : . TS : . DDD_HI_percent : 7.07 ACMG : . ExAC_cnvZ : 0.855955050145063 ExAC_delZ : 0.736443595986406 ExAC_dupZ : 0.610144426130287 ExAC_synZ : -0.757561565989339 ExAC_misZ : 1.23541417134581 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 81688 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_030939 Tx_version : 5 Tx_start : 24704860 Tx_end : 24719154 Exon_count : 5 Overlapped_tx_length : 14294 Overlapped_CDS_length : 690 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24704860 Intersect_end : 24719154 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZNF184Gene_name : ZNF184; LOEUF_bin : 2 GnomAD_pLI : 3.6775e-03 ExAC_pLI : 1.3375e-01 HI : . TS : . DDD_HI_percent : 68.17 ACMG : . ExAC_cnvZ : -0.345337948849365 ExAC_delZ : 0.470844840569338 ExAC_dupZ : -0.70814356091809 ExAC_synZ : -0.207361404628096 ExAC_misZ : 2.26832507953413 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7738 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_001318891 Tx_version : 2 Tx_start : 27450746 Tx_end : 27473105 Exon_count : 6 Overlapped_tx_length : 22359 Overlapped_CDS_length : 2256 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27450746 Intersect_end : 27473105 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
GPLD1Gene_name : GPLD1; LOEUF_bin : 4 GnomAD_pLI : 1.5871e-15 ExAC_pLI : 5.6395e-09 HI : . TS : . DDD_HI_percent : 73.21 ACMG : . ExAC_cnvZ : -0.305491619013996 ExAC_delZ : -0.846275527972768 ExAC_dupZ : -0.00757115246900079 ExAC_synZ : 0.221629576045876 ExAC_misZ : -0.918500531259346 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 2822 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : XM_017010753 Tx_version : 3 Tx_start : 24425831 Tx_end : 24495287 Exon_count : 26 Overlapped_tx_length : 69456 Overlapped_CDS_length : 2553 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24425831 Intersect_end : 24495287 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
15P_snvindel_nb : 15 P_snvindel_phen : Succinate-semialdehyde_dehydrogenase_deficiency |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZSCAN12Gene_name : ZSCAN12; LOEUF_bin : 4 GnomAD_pLI : 2.1145e-07 ExAC_pLI : 1.4399e-05 HI : . TS : . DDD_HI_percent : 77.66 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.231928212502194 ExAC_misZ : 0.265981237302912 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9753 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : XM_047419595 Tx_version : 1 Tx_start : 28382522 Tx_end : 28399747 Exon_count : 6 Overlapped_tx_length : 17225 Overlapped_CDS_length : 1836 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28382522 Intersect_end : 28399747 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
PRSS16Gene_name : PRSS16; LOEUF_bin : 4 GnomAD_pLI : 4.0615e-07 ExAC_pLI : 2.2379e-06 HI : . TS : . DDD_HI_percent : 76.67 ACMG : . ExAC_cnvZ : -0.60779582874506 ExAC_delZ : -0.963246906200393 ExAC_dupZ : -0.360211832842989 ExAC_synZ : 2.15158043942622 ExAC_misZ : 2.49984597612065 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10279 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_005865 Tx_version : 4 Tx_start : 27247700 Tx_end : 27256620 Exon_count : 12 Overlapped_tx_length : 8920 Overlapped_CDS_length : 1545 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27247700 Intersect_end : 27256620 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZKSCAN4Gene_name : ZKSCAN4; LOEUF_bin : 4 GnomAD_pLI : 1.4184e-04 ExAC_pLI : 6.7429e-05 HI : . TS : . DDD_HI_percent : 76.51 ACMG : . ExAC_cnvZ : 0.698964911899107 ExAC_delZ : 0.0316801248539122 ExAC_dupZ : 0.876728399064605 ExAC_synZ : 1.53615155420822 ExAC_misZ : 1.79373883237546 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 387032 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : XM_005249095 Tx_version : 4 Tx_start : 28241696 Tx_end : 28252945 Exon_count : 6 Overlapped_tx_length : 11249 Overlapped_CDS_length : 1638 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28241696 Intersect_end : 28252945 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZKSCAN8Gene_name : ZKSCAN8; LOEUF_bin : 4 GnomAD_pLI : 1.7574e-07 ExAC_pLI : 2.3159e-04 HI : . TS : . DDD_HI_percent : 44.08 ACMG : . ExAC_cnvZ : 0.839100492871045 ExAC_delZ : 0.197570375254987 ExAC_dupZ : 0.978978411868573 ExAC_synZ : -0.268369374170603 ExAC_misZ : 0.941369732396183 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7745 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : XM_017011266 Tx_version : 3 Tx_start : 28141634 Tx_end : 28159460 Exon_count : 6 Overlapped_tx_length : 17826 Overlapped_CDS_length : 1737 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28141634 Intersect_end : 28159460 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
NKAPLGene_name : NKAPL; LOEUF_bin : 5 GnomAD_pLI : 9.2219e-05 ExAC_pLI : 1.6562e-04 HI : . TS : . DDD_HI_percent : 82.24 ACMG : . ExAC_cnvZ : 0.528951308377169 ExAC_delZ : 0.185588308965597 ExAC_dupZ : 0.442521045576282 ExAC_synZ : 2.25799328260214 ExAC_misZ : 1.5614874474037 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 222698 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_001007531 Tx_version : 3 Tx_start : 28259296 Tx_end : 28260958 Exon_count : 1 Overlapped_tx_length : 1662 Overlapped_CDS_length : 1209 Overlapped_CDS_percent : 76 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28259296 Intersect_end : 28260958 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
KIAA0319Gene_name : KIAA0319; LOEUF_bin : 5 GnomAD_pLI : 3.3234e-20 ExAC_pLI : 7.9579e-12 HI : . TS : . DDD_HI_percent : 73.37 ACMG : . ExAC_cnvZ : 1.3519700358636 ExAC_delZ : 1.22041569714049 ExAC_dupZ : 1.05078570843097 ExAC_synZ : 0.412400632560343 ExAC_misZ : -0.739034046093914 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 9856 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_001168375 Tx_version : 2 Tx_start : 24544106 Tx_end : 24646191 Exon_count : 21 Overlapped_tx_length : 102085 Overlapped_CDS_length : 3219 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24544106 Intersect_end : 24646191 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
MRS2Gene_name : MRS2; LOEUF_bin : 5 GnomAD_pLI : 1.9516e-08 ExAC_pLI : 8.8458e-05 HI : . TS : . DDD_HI_percent : 32.1 ACMG : . ExAC_cnvZ : -0.231794095758456 ExAC_delZ : -0.494960621803067 ExAC_dupZ : -0.0955132032284613 ExAC_synZ : 0.696433545424764 ExAC_misZ : 1.48243458475782 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 57380 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_001286264 Tx_version : 2 Tx_start : 24402935 Tx_end : 24426190 Exon_count : 12 Overlapped_tx_length : 23255 Overlapped_CDS_length : 1341 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24402935 Intersect_end : 24426190 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZNF322Gene_name : ZNF322; LOEUF_bin : 5 GnomAD_pLI : 2.9880e-02 ExAC_pLI : . HI : . TS : . DDD_HI_percent : 55.71 ACMG : . ExAC_cnvZ : 0.335049178581807 ExAC_delZ : 0.339787359568575 ExAC_dupZ : 0.14246114311273 ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79692 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_001242797 Tx_version : 2 Tx_start : 26634382 Tx_end : 26659746 Exon_count : 5 Overlapped_tx_length : 25364 Overlapped_CDS_length : 1209 Overlapped_CDS_percent : 87 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26634382 Intersect_end : 26659746 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ABT1Gene_name : ABT1; LOEUF_bin : 5 GnomAD_pLI : 2.0296e-02 ExAC_pLI : 2.7106e-02 HI : . TS : . DDD_HI_percent : 68.44 ACMG : . ExAC_cnvZ : -0.155226796935508 ExAC_delZ : -0.318993779065711 ExAC_dupZ : -0.0723944953356549 ExAC_synZ : -0.467709789460022 ExAC_misZ : 1.66860783818289 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 29777 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_013375 Tx_version : 4 Tx_start : 26596952 Tx_end : 26600739 Exon_count : 3 Overlapped_tx_length : 3787 Overlapped_CDS_length : 819 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26596952 Intersect_end : 26600739 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:26587795-26601188 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
HDGFL1Gene_name : HDGFL1; LOEUF_bin : 5 GnomAD_pLI : 5.8681e-02 ExAC_pLI : 3.1334e-01 HI : . TS : . DDD_HI_percent : 93.77 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 2.54163041946051 ExAC_misZ : 1.71503686926376 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 154150 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_138574 Tx_version : 4 Tx_start : 22569565 Tx_end : 22571666 Exon_count : 1 Overlapped_tx_length : 2101 Overlapped_CDS_length : 756 Overlapped_CDS_percent : 36 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 22569565 Intersect_end : 22571666 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZNF165Gene_name : ZNF165; LOEUF_bin : 6 GnomAD_pLI : 9.1110e-09 ExAC_pLI : 5.6329e-04 HI : . TS : . DDD_HI_percent : 85.11 ACMG : . ExAC_cnvZ : 0.65258906466685 ExAC_delZ : 0.0258664142215883 ExAC_dupZ : 0.816457690828695 ExAC_synZ : 0.0875501556738906 ExAC_misZ : 0.189444805253221 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7718 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_001376491 Tx_version : 1 Tx_start : 28080567 Tx_end : 28089563 Exon_count : 4 Overlapped_tx_length : 8996 Overlapped_CDS_length : 1458 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28080567 Intersect_end : 28089563 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:28026540-28125186 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
TRIM38Gene_name : TRIM38; LOEUF_bin : 6 GnomAD_pLI : 1.3947e-08 ExAC_pLI : 4.7513e-06 HI : . TS : . DDD_HI_percent : 89.65 ACMG : . ExAC_cnvZ : 0.342910255874873 ExAC_delZ : -0.0516971288126245 ExAC_dupZ : 0.428481510580904 ExAC_synZ : 1.23559819190761 ExAC_misZ : 0.452114348452051 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10475 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_006355 Tx_version : 5 Tx_start : 25962801 Tx_end : 25991231 Exon_count : 8 Overlapped_tx_length : 28430 Overlapped_CDS_length : 1398 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25962801 Intersect_end : 25991231 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
BTN3A1Gene_name : BTN3A1; LOEUF_bin : 6 GnomAD_pLI : 5.8712e-09 ExAC_pLI : 8.6511e-07 HI : . TS : . DDD_HI_percent : 97.54 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 1.44530440851597 ExAC_misZ : 0.843323228911861 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11119 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_007048 Tx_version : 6 Tx_start : 26402274 Tx_end : 26415208 Exon_count : 10 Overlapped_tx_length : 12934 Overlapped_CDS_length : 1542 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26402274 Intersect_end : 26415208 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:26367772-26442772; chr6:26368480-26444267 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
BTN2A2Gene_name : BTN2A2; LOEUF_bin : 6 GnomAD_pLI : 1.3821e-11 ExAC_pLI : 1.5029e-04 HI : . TS : . DDD_HI_percent : 88.35 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.460861086231153 ExAC_misZ : 0.106145615608062 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10385 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_001197237 Tx_version : 2 Tx_start : 26383107 Tx_end : 26394874 Exon_count : 8 Overlapped_tx_length : 11767 Overlapped_CDS_length : 1572 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26383107 Intersect_end : 26394874 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26368701-26405919; chr6:26369272-26405772 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:26367772-26442772; chr6:26368480-26444267; chr6:26368701-26405919; chr6:26368772-26405772 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZSCAN31Gene_name : ZSCAN31; LOEUF_bin : 6 GnomAD_pLI : 3.6470e-08 ExAC_pLI : 3.7713e-09 HI : . TS : . DDD_HI_percent : 87.34 ACMG : . ExAC_cnvZ : 0.0151538266851578 ExAC_delZ : -1.46841729517335 ExAC_dupZ : 1.32156943181946 ExAC_synZ : -0.647327106096929 ExAC_misZ : -0.400370945440304 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 64288 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_001135215 Tx_version : 1 Tx_start : 28324736 Tx_end : 28356271 Exon_count : 8 Overlapped_tx_length : 31535 Overlapped_CDS_length : 1221 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28324736 Intersect_end : 28356271 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZKSCAN3Gene_name : ZKSCAN3; LOEUF_bin : 6 GnomAD_pLI : 1.9697e-11 ExAC_pLI : 1.2261e-04 HI : . TS : . DDD_HI_percent : 81.15 ACMG : . ExAC_cnvZ : 0.494679883689265 ExAC_delZ : -0.177909713026404 ExAC_dupZ : 0.715557170182653 ExAC_synZ : 0.754433399252584 ExAC_misZ : 1.53111151240202 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80317 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : XM_006715215 Tx_version : 3 Tx_start : 28349877 Tx_end : 28369172 Exon_count : 6 Overlapped_tx_length : 19295 Overlapped_CDS_length : 1617 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28349877 Intersect_end : 28369172 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
SLC17A4Gene_name : SLC17A4; LOEUF_bin : 6 GnomAD_pLI : 1.5714e-09 ExAC_pLI : 6.3342e-06 HI : . TS : . DDD_HI_percent : 88.38 ACMG : . ExAC_cnvZ : 0.397793404710312 ExAC_delZ : 0.687034645245354 ExAC_dupZ : 0.141599047914189 ExAC_synZ : -0.231624730003496 ExAC_misZ : -0.962202641694695 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10050 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : XM_024446295 Tx_version : 2 Tx_start : 25754698 Tx_end : 25781199 Exon_count : 13 Overlapped_tx_length : 26501 Overlapped_CDS_length : 1494 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25754698 Intersect_end : 25781199 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
OR2B6Gene_name : OR2B6; LOEUF_bin : 6 GnomAD_pLI : 3.4004e-03 ExAC_pLI : 4.0731e-02 HI : . TS : . DDD_HI_percent : 81.77 ACMG : . ExAC_cnvZ : 0.575945092458564 ExAC_delZ : 0.854702399371968 ExAC_dupZ : 0.251658481151264 ExAC_synZ : -0.231814784429582 ExAC_misZ : -0.584585255976105 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 26212 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_012367 Tx_version : 1 Tx_start : 27957240 Tx_end : 27958182 Exon_count : 1 Overlapped_tx_length : 942 Overlapped_CDS_length : 942 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27957240 Intersect_end : 27958182 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
BTN1A1Gene_name : BTN1A1; LOEUF_bin : 6 GnomAD_pLI : 1.9496e-08 ExAC_pLI : 1.1409e-09 HI : . TS : . DDD_HI_percent : 80.28 ACMG : . ExAC_cnvZ : 0.128239156319701 ExAC_delZ : 0.136553735535588 ExAC_dupZ : 0.0710756264844404 ExAC_synZ : 2.16656725261637 ExAC_misZ : 1.97529720274343 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 696 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_001732 Tx_version : 3 Tx_start : 26500302 Tx_end : 26510425 Exon_count : 8 Overlapped_tx_length : 10123 Overlapped_CDS_length : 1581 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26500302 Intersect_end : 26510425 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
OR2B2Gene_name : OR2B2; LOEUF_bin : 6 GnomAD_pLI : 9.9618e-03 ExAC_pLI : 6.8672e-05 HI : . TS : . DDD_HI_percent : 80.52 ACMG : . ExAC_cnvZ : -0.379786757730926 ExAC_delZ : 0.332073648464813 ExAC_dupZ : -0.698293514906744 ExAC_synZ : -0.102920131728861 ExAC_misZ : 0.516400250627411 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 81697 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_033057 Tx_version : 2 Tx_start : 27911184 Tx_end : 27912396 Exon_count : 1 Overlapped_tx_length : 1212 Overlapped_CDS_length : 1074 Overlapped_CDS_percent : 93 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27911184 Intersect_end : 27912396 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27885222-27918422 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
SCGNGene_name : SCGN; LOEUF_bin : 7 GnomAD_pLI : 2.3395e-11 ExAC_pLI : 3.5946e-02 HI : . TS : . DDD_HI_percent : 76.3 ACMG : . ExAC_cnvZ : 0.148846163178072 ExAC_delZ : 0.945700400995126 ExAC_dupZ : -0.288894944101178 ExAC_synZ : 0.479526702648331 ExAC_misZ : 0.455132487853954 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10590 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_006998 Tx_version : 4 Tx_start : 25652214 Tx_end : 25701783 Exon_count : 11 Overlapped_tx_length : 49569 Overlapped_CDS_length : 831 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25652214 Intersect_end : 25701783 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
GPX5Gene_name : GPX5; LOEUF_bin : 7 GnomAD_pLI : 5.5229e-04 ExAC_pLI : 8.8847e-03 HI : . TS : . DDD_HI_percent : 49.84 ACMG : . ExAC_cnvZ : -0.332494471600738 ExAC_delZ : 0.533785962695656 ExAC_dupZ : -0.765539302151412 ExAC_synZ : 0.692256063929677 ExAC_misZ : 0.0281415145557814 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 2880 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_001509 Tx_version : 3 Tx_start : 28525880 Tx_end : 28534955 Exon_count : 5 Overlapped_tx_length : 9075 Overlapped_CDS_length : 666 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28525880 Intersect_end : 28534955 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZSCAN23Gene_name : ZSCAN23; LOEUF_bin : 7 GnomAD_pLI : 4.1094e-10 ExAC_pLI : 2.7030e-03 HI : . TS : . DDD_HI_percent : 81 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.2932412126686 ExAC_misZ : 0.476545070090048 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 222696 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : XM_047418384 Tx_version : 1 Tx_start : 28427061 Tx_end : 28443491 Exon_count : 5 Overlapped_tx_length : 16430 Overlapped_CDS_length : 1170 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28427061 Intersect_end : 28443491 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZSCAN9Gene_name : ZSCAN9; LOEUF_bin : 7 GnomAD_pLI : 1.7236e-11 ExAC_pLI : 4.1025e-08 HI : . TS : . DDD_HI_percent : 88.39 ACMG : . ExAC_cnvZ : 0.228164025858565 ExAC_delZ : -0.436298119910846 ExAC_dupZ : 0.49812056215991 ExAC_synZ : -0.445045614928375 ExAC_misZ : -0.262427444172949 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 7746 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : XM_011514875 Tx_version : 3 Tx_start : 28225416 Tx_end : 28233487 Exon_count : 5 Overlapped_tx_length : 8071 Overlapped_CDS_length : 1752 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28225416 Intersect_end : 28233487 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
SLC17A1Gene_name : SLC17A1; LOEUF_bin : 7 GnomAD_pLI : 4.1179e-16 ExAC_pLI : 2.5926e-10 HI : . TS : . DDD_HI_percent : 90.57 ACMG : . ExAC_cnvZ : 0.78593615836014 ExAC_delZ : 0.938881333852113 ExAC_dupZ : 0.460893391505868 ExAC_synZ : 0.0610337146392267 ExAC_misZ : -0.692807040838967 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 6568 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : XM_017011201 Tx_version : 3 Tx_start : 25723742 Tx_end : 25832052 Exon_count : 13 Overlapped_tx_length : 108310 Overlapped_CDS_length : 1404 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25723742 Intersect_end : 25832052 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
BTN3A2Gene_name : BTN3A2; LOEUF_bin : 7 GnomAD_pLI : 1.1002e-10 ExAC_pLI : 1.2452e-04 HI : . TS : . DDD_HI_percent : 99.12 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 2.17855998447766 ExAC_misZ : 1.82482704691632 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11118 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : XM_006714979 Tx_version : 5 Tx_start : 26365197 Tx_end : 26378312 Exon_count : 11 Overlapped_tx_length : 13115 Overlapped_CDS_length : 1020 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26365197 Intersect_end : 26378312 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZNF391Gene_name : ZNF391; LOEUF_bin : 7 GnomAD_pLI : 6.4452e-08 ExAC_pLI : 9.2587e-07 HI : . TS : . DDD_HI_percent : 89.16 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 0.227953079019363 ExAC_misZ : -0.236412306340084 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 346157 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_001322288 Tx_version : 2 Tx_start : 27374614 Tx_end : 27403908 Exon_count : 4 Overlapped_tx_length : 29294 Overlapped_CDS_length : 1077 Overlapped_CDS_percent : 30 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27374614 Intersect_end : 27403908 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZSCAN16Gene_name : ZSCAN16; LOEUF_bin : 7 GnomAD_pLI : 2.1302e-07 ExAC_pLI : 2.6730e-06 HI : . TS : . DDD_HI_percent : 83.88 ACMG : . ExAC_cnvZ : -0.317024963420819 ExAC_delZ : -1.27413493443702 ExAC_dupZ : 0.417663222357123 ExAC_synZ : 0.409694085063461 ExAC_misZ : -0.100756897673369 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 80345 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_001320555 Tx_version : 2 Tx_start : 28124608 Tx_end : 28130082 Exon_count : 4 Overlapped_tx_length : 5474 Overlapped_CDS_length : 1047 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28124608 Intersect_end : 28130082 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
PRLGene_name : PRL; LOEUF_bin : 7 GnomAD_pLI : 2.9015e-07 ExAC_pLI : 2.6411e-03 HI : . TS : . DDD_HI_percent : 2.27 ACMG : . ExAC_cnvZ : -0.526966107878061 ExAC_delZ : -1.67586153413586 ExAC_dupZ : 0.414981664841005 ExAC_synZ : 0.497455516550803 ExAC_misZ : 1.24201734811389 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 5617 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : XM_011514753 Tx_version : 3 Tx_start : 22287245 Tx_end : 22302835 Exon_count : 6 Overlapped_tx_length : 15590 Overlapped_CDS_length : 687 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 22287245 Intersect_end : 22302835 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:22270909-22331689 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:22274500-22346259 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
BTN3A3Gene_name : BTN3A3; LOEUF_bin : 8 GnomAD_pLI : 1.1892e-18 ExAC_pLI : 7.1902e-10 HI : . TS : . DDD_HI_percent : 99.07 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : 0.88810113743281 ExAC_misZ : 0.221188992707095 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10384 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_006994 Tx_version : 5 Tx_start : 26440503 Tx_end : 26453415 Exon_count : 11 Overlapped_tx_length : 12912 Overlapped_CDS_length : 1755 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26440503 Intersect_end : 26453415 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26427232-26464632 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:26428980-26466231 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
NRSN1Gene_name : NRSN1; LOEUF_bin : 8 GnomAD_pLI : 3.0819e-04 ExAC_pLI : 4.3073e-03 HI : . TS : . DDD_HI_percent : 71.68 ACMG : . ExAC_cnvZ : 0.683322377410073 ExAC_delZ : 0.21461519014493 ExAC_dupZ : 0.614244879458606 ExAC_synZ : 0.6333385785481 ExAC_misZ : 0.644091415284998 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 140767 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_080723 Tx_version : 5 Tx_start : 24126214 Tx_end : 24147530 Exon_count : 4 Overlapped_tx_length : 21316 Overlapped_CDS_length : 588 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24126214 Intersect_end : 24147530 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:24064663-24179744 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ACOT13Gene_name : ACOT13; LOEUF_bin : 9 GnomAD_pLI : 3.1271e-06 ExAC_pLI : 3.4293e-05 HI : . TS : . DDD_HI_percent : 68.53 ACMG : . ExAC_cnvZ : 0.522667781559352 ExAC_delZ : 0.383384854637078 ExAC_dupZ : 0.35179518565656 ExAC_synZ : 0.383753367606661 ExAC_misZ : 0.325459033193908 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 55856 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_018473 Tx_version : 4 Tx_start : 24667076 Tx_end : 24705046 Exon_count : 3 Overlapped_tx_length : 37970 Overlapped_CDS_length : 423 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24667076 Intersect_end : 24705046 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
KAAG1Gene_name : KAAG1; LOEUF_bin : 9 GnomAD_pLI : 2.8715e-01 ExAC_pLI : 1.9191e-02 HI : . TS : . DDD_HI_percent : 82.43 ACMG : . ExAC_cnvZ : 0.589183439941754 ExAC_delZ : 0.153273437227383 ExAC_dupZ : 0.549237454119407 ExAC_synZ : 2.35949023520648 ExAC_misZ : 1.79064074543529 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 353219 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : NR_174942 Tx_version : 1 Tx_start : 24356902 Tx_end : 24358285 Exon_count : 1 Overlapped_tx_length : 1383 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24356902 Intersect_end : 24358285 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Autosomal_recessive_nonsyndromic_hearing_loss_66; Dyslexia,_susceptibility_to,_2; Isolated_neonatal_sclerosing_cholangitis; Nephronophthisis_19 |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_033482 Tx_version : 4 Tx_start : 27308376 Tx_end : 27312273 Exon_count : 1 Overlapped_tx_length : 3897 Overlapped_CDS_length : 3108 Overlapped_CDS_percent : 96 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27308376 Intersect_end : 27312273 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
BTN2A1Gene_name : BTN2A1; LOEUF_bin : 9 GnomAD_pLI : 3.3959e-21 ExAC_pLI : 1.0747e-18 HI : . TS : . DDD_HI_percent : 89.63 ACMG : . ExAC_cnvZ : -2.47162789907313 ExAC_delZ : -2.62354415217069 ExAC_dupZ : -2.53125239294469 ExAC_synZ : -0.678352575230947 ExAC_misZ : -1.09220754057245 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 11120 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_007049 Tx_version : 5 Tx_start : 26457954 Tx_end : 26469637 Exon_count : 8 Overlapped_tx_length : 11683 Overlapped_CDS_length : 1584 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26457954 Intersect_end : 26469637 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
HMGN4Gene_name : HMGN4; LOEUF_bin : 9 GnomAD_pLI : 3.1986e-01 ExAC_pLI : 5.5708e-01 HI : . TS : . DDD_HI_percent : 83.25 ACMG : . ExAC_cnvZ : 0.11751368424678 ExAC_delZ : -0.0209195723894949 ExAC_dupZ : 0.118365986956158 ExAC_synZ : 0.220745524820524 ExAC_misZ : 0.177226292247615 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10473 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_006353 Tx_version : 3 Tx_start : 26538365 Tx_end : 26546933 Exon_count : 2 Overlapped_tx_length : 8568 Overlapped_CDS_length : 273 Overlapped_CDS_percent : 15 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26538365 Intersect_end : 26546933 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_021062 Tx_version : 3 Tx_start : 26043226 Tx_end : 26043713 Exon_count : 1 Overlapped_tx_length : 487 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 87 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26043226 Intersect_end : 26043713 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26025922-26045396 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
H2BC6-AS1Gene_name : H2BC6-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 128266838 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_186648 Tx_version : 1 Tx_start : 26160273 Tx_end : 26172773 Exon_count : 3 Overlapped_tx_length : 12500 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26160273 Intersect_end : 26172773 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZKSCAN8P1Gene_name : ZKSCAN8P1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 651302 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_103448 Tx_version : 1 Tx_start : 28161760 Tx_end : 28169595 Exon_count : 5 Overlapped_tx_length : 7835 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28161760 Intersect_end : 28169595 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_024553 Tx_version : 1 Tx_start : 27357822 Tx_end : 27375374 Exon_count : 5 Overlapped_tx_length : 17552 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27357822 Intersect_end : 27375374 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_002936 Tx_version : 2 Tx_start : 28215337 Tx_end : 28218929 Exon_count : 1 Overlapped_tx_length : 3592 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28215337 Intersect_end : 28218929 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : NR_015410 Tx_version : 2 Tx_start : 21666412 Tx_end : 22195820 Exon_count : 12 Overlapped_tx_length : 529408 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 21666412 Intersect_end : 22195820 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003509 Tx_version : 3 Tx_start : 27808172 Tx_end : 27808667 Exon_count : 1 Overlapped_tx_length : 495 Overlapped_CDS_length : 393 Overlapped_CDS_percent : 85 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27808172 Intersect_end : 27808667 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27804832-27808998 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:27806597-27814680 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_045612 Tx_version : 1 Tx_start : 27324760 Tx_end : 27325963 Exon_count : 1 Overlapped_tx_length : 1203 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27324760 Intersect_end : 27325963 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003533 Tx_version : 3 Tx_start : 27871844 Tx_end : 27872346 Exon_count : 1 Overlapped_tx_length : 502 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 92 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27871844 Intersect_end : 27872346 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_026790 Tx_version : 1 Tx_start : 26521705 Tx_end : 26527393 Exon_count : 1 Overlapped_tx_length : 5688 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26521705 Intersect_end : 26527393 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:26510772-26531772 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_021064 Tx_version : 5 Tx_start : 27133042 Tx_end : 27133535 Exon_count : 1 Overlapped_tx_length : 493 Overlapped_CDS_length : 393 Overlapped_CDS_percent : 84 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27133042 Intersect_end : 27133535 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_021065 Tx_version : 3 Tx_start : 26198783 Tx_end : 26199293 Exon_count : 1 Overlapped_tx_length : 510 Overlapped_CDS_length : 393 Overlapped_CDS_percent : 88 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26198783 Intersect_end : 26199293 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26196282-26207207 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:26192794-26212452; chr6:26196282-26207207 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003540 Tx_version : 4 Tx_start : 26240392 Tx_end : 26240793 Exon_count : 1 Overlapped_tx_length : 401 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 84 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26240392 Intersect_end : 26240793 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:26238906-26240959 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : NR_034143 Tx_version : 1 Tx_start : 22134601 Tx_end : 22147193 Exon_count : 3 Overlapped_tx_length : 12592 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 22134601 Intersect_end : 22147193 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003535 Tx_version : 3 Tx_start : 27890314 Tx_end : 27890826 Exon_count : 1 Overlapped_tx_length : 512 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 92 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27890314 Intersect_end : 27890826 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27885222-27918422 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : NM_001282492 Tx_version : 2 Tx_start : 24797334 Tx_end : 24798917 Exon_count : 2 Overlapped_tx_length : 1583 Overlapped_CDS_length : 693 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24797334 Intersect_end : 24798917 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003522 Tx_version : 4 Tx_start : 26199515 Tx_end : 26199988 Exon_count : 1 Overlapped_tx_length : 473 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 88 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26199515 Intersect_end : 26199988 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26196282-26207207 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:26192794-26212452; chr6:26196282-26207207 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_174096 Tx_version : 1 Tx_start : 28053227 Tx_end : 28054202 Exon_count : 1 Overlapped_tx_length : 975 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28053227 Intersect_end : 28054202 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:28026540-28125186 B_gain_AFmax : 0.01 B_loss_source : 1000g; dbVar B_loss_coord : chr6:28052018-28055080; 6:28052019-28055080; chr6:28052104-28056152 B_loss_AFmax : 0.0133 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_170610 Tx_version : 3 Tx_start : 25726776 Tx_end : 25727345 Exon_count : 1 Overlapped_tx_length : 569 Overlapped_CDS_length : 384 Overlapped_CDS_percent : 87 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25726776 Intersect_end : 25727345 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_001381999 Tx_version : 1 Tx_start : 26224177 Tx_end : 26227473 Exon_count : 2 Overlapped_tx_length : 3296 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 17 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26224177 Intersect_end : 26227473 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_045125 Tx_version : 2 Tx_start : 25732380 Tx_end : 25737705 Exon_count : 2 Overlapped_tx_length : 5325 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25732380 Intersect_end : 25737705 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003521 Tx_version : 3 Tx_start : 27815021 Tx_end : 27815489 Exon_count : 1 Overlapped_tx_length : 468 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 85 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27815021 Intersect_end : 27815489 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003520 Tx_version : 4 Tx_start : 27838568 Tx_end : 27839110 Exon_count : 1 Overlapped_tx_length : 542 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 84 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27838568 Intersect_end : 27839110 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27827497-27839980 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:27828961-27841298 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003512 Tx_version : 4 Tx_start : 26124171 Tx_end : 26124690 Exon_count : 1 Overlapped_tx_length : 519 Overlapped_CDS_length : 393 Overlapped_CDS_percent : 85 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26124171 Intersect_end : 26124690 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003546 Tx_version : 3 Tx_start : 27873147 Tx_end : 27873534 Exon_count : 1 Overlapped_tx_length : 387 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 92 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27873147 Intersect_end : 27873534 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003531 Tx_version : 3 Tx_start : 26045383 Tx_end : 26045869 Exon_count : 1 Overlapped_tx_length : 486 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 89 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26045383 Intersect_end : 26045869 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_080593 Tx_version : 2 Tx_start : 27138292 Tx_end : 27146858 Exon_count : 2 Overlapped_tx_length : 8566 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 86 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27138292 Intersect_end : 27146858 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : 6:27139282-27139678 P_loss_source : morbid:H4C9 P_loss_phen : Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4, 619951 (3) AD P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003544 Tx_version : 3 Tx_start : 26026895 Tx_end : 26027283 Exon_count : 1 Overlapped_tx_length : 388 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 90 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26026895 Intersect_end : 26027283 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26025922-26045396 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_005319 Tx_version : 4 Tx_start : 26055739 Tx_end : 26056470 Exon_count : 1 Overlapped_tx_length : 731 Overlapped_CDS_length : 642 Overlapped_CDS_percent : 93 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26055739 Intersect_end : 26056470 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003519 Tx_version : 4 Tx_start : 27807478 Tx_end : 27807929 Exon_count : 1 Overlapped_tx_length : 451 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 94 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27807478 Intersect_end : 27807929 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27804832-27808998 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:27806597-27814680 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_026776 Tx_version : 1 Tx_start : 27019365 Tx_end : 27020306 Exon_count : 1 Overlapped_tx_length : 941 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27019365 Intersect_end : 27020306 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003524 Tx_version : 3 Tx_start : 26251613 Tx_end : 26252075 Exon_count : 1 Overlapped_tx_length : 462 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 89 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26251613 Intersect_end : 26252075 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003530 Tx_version : 4 Tx_start : 26196783 Tx_end : 26199293 Exon_count : 2 Overlapped_tx_length : 2510 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 95 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26196783 Intersect_end : 26199293 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26196282-26207207 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:26192794-26212452; chr6:26196282-26207207 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_005325 Tx_version : 4 Tx_start : 26017031 Tx_end : 26017787 Exon_count : 1 Overlapped_tx_length : 756 Overlapped_CDS_length : 648 Overlapped_CDS_percent : 92 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26017031 Intersect_end : 26017787 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_001381989 Tx_version : 1 Tx_start : 26113169 Tx_end : 26123926 Exon_count : 2 Overlapped_tx_length : 10757 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 94 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26113169 Intersect_end : 26123926 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26103098-26124338 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_003504 Tx_version : 3 Tx_start : 26871486 Tx_end : 26956554 Exon_count : 9 Overlapped_tx_length : 85068 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26871486 Intersect_end : 26956554 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : esv2763937 B_loss_coord : 6:26681694-26995155 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LINC01012Gene_name : LINC01012; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100507173 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_038293 Tx_version : 1 Tx_start : 27694034 Tx_end : 27710222 Exon_count : 3 Overlapped_tx_length : 16188 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27694034 Intersect_end : 27710222 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27535526-27745500; chr6:27688307-27805373 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003514 Tx_version : 2 Tx_start : 27892698 Tx_end : 27893185 Exon_count : 1 Overlapped_tx_length : 487 Overlapped_CDS_length : 393 Overlapped_CDS_percent : 91 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27892698 Intersect_end : 27893185 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27885222-27918422 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_027795 Tx_version : 1 Tx_start : 26421390 Tx_end : 26430588 Exon_count : 7 Overlapped_tx_length : 9198 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26421390 Intersect_end : 26430588 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:26367772-26442772; chr6:26368480-26444267 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LINC03005Gene_name : LINC03005; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105374972 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : NR_134614 Tx_version : 1 Tx_start : 22643509 Tx_end : 22717924 Exon_count : 3 Overlapped_tx_length : 74415 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 22643509 Intersect_end : 22717924 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_144383 Tx_version : 1 Tx_start : 26086289 Tx_end : 26091034 Exon_count : 2 Overlapped_tx_length : 4745 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26086289 Intersect_end : 26091034 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
2P_snvindel_nb : 2 P_snvindel_phen : Abnormality_of_iron_homeostasis; Alzheimer_disease; Bronze_diabetes; Cardiomyopathy; Cystic_fibrosis; Familial_porphyria_cutanea_tarda; Hemochromatosis_type_1; Hereditary_hemochromatosis; Microvascular_complications_of_diabetes,_susceptibility_to,_7; Transferrin_serum_level_quantitative_trait_locus_2; Variegate_porphyria; not_specified |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003543 Tx_version : 4 Tx_start : 26285125 Tx_end : 26285534 Exon_count : 1 Overlapped_tx_length : 409 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 89 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26285125 Intersect_end : 26285534 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003547 Tx_version : 3 Tx_start : 26246610 Tx_end : 26246996 Exon_count : 1 Overlapped_tx_length : 386 Overlapped_CDS_length : 297 Overlapped_CDS_percent : 93 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26246610 Intersect_end : 26246996 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003511 Tx_version : 3 Tx_start : 27865316 Tx_end : 27865798 Exon_count : 1 Overlapped_tx_length : 482 Overlapped_CDS_length : 393 Overlapped_CDS_percent : 88 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27865316 Intersect_end : 27865798 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003541 Tx_version : 3 Tx_start : 27831173 Tx_end : 27831560 Exon_count : 1 Overlapped_tx_length : 387 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 90 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27831173 Intersect_end : 27831560 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27827497-27839980 B_gain_AFmax : 0.01 B_loss_source : DDD:20109; dbVar B_loss_coord : chr6:27828961-27841298; 6:27831119-27837503 B_loss_AFmax : 0.0118 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003539 Tx_version : 4 Tx_start : 26188709 Tx_end : 26189112 Exon_count : 1 Overlapped_tx_length : 403 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 89 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26188709 Intersect_end : 26189112 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003537 Tx_version : 4 Tx_start : 26031588 Tx_end : 26032099 Exon_count : 1 Overlapped_tx_length : 511 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 91 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26031588 Intersect_end : 26032099 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26025922-26045396 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_080596 Tx_version : 3 Tx_start : 27147105 Tx_end : 27147562 Exon_count : 1 Overlapped_tx_length : 457 Overlapped_CDS_length : 387 Overlapped_CDS_percent : 89 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27147105 Intersect_end : 27147562 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003538 Tx_version : 4 Tx_start : 26021648 Tx_end : 26022050 Exon_count : 1 Overlapped_tx_length : 402 Overlapped_CDS_length : 312 Overlapped_CDS_percent : 83 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26021648 Intersect_end : 26022050 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_005323 Tx_version : 4 Tx_start : 26107411 Tx_end : 26108135 Exon_count : 1 Overlapped_tx_length : 724 Overlapped_CDS_length : 624 Overlapped_CDS_percent : 93 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26107411 Intersect_end : 26108135 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26103098-26124338 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LINC02828Gene_name : LINC02828; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 105374978 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : NR_183315 Tx_version : 1 Tx_start : 24742304 Tx_end : 24751960 Exon_count : 3 Overlapped_tx_length : 9656 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24742304 Intersect_end : 24751960 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_005320 Tx_version : 3 Tx_start : 26234211 Tx_end : 26234987 Exon_count : 1 Overlapped_tx_length : 776 Overlapped_CDS_length : 666 Overlapped_CDS_percent : 92 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26234211 Intersect_end : 26234987 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_005322 Tx_version : 3 Tx_start : 27866791 Tx_end : 27867588 Exon_count : 1 Overlapped_tx_length : 797 Overlapped_CDS_length : 681 Overlapped_CDS_percent : 92 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27866791 Intersect_end : 27867588 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003536 Tx_version : 3 Tx_start : 27810050 Tx_end : 27810536 Exon_count : 1 Overlapped_tx_length : 486 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 88 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27810050 Intersect_end : 27810536 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:27806597-27814680 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : XM_017011008 Tx_version : 2 Tx_start : 25279373 Tx_end : 25620530 Exon_count : 40 Overlapped_tx_length : 341157 Overlapped_CDS_length : 4296 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25279373 Intersect_end : 25620530 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LINC00240Gene_name : LINC00240; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100133205 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_026775 Tx_version : 2 Tx_start : 26956992 Tx_end : 27023974 Exon_count : 3 Overlapped_tx_length : 66982 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26956992 Intersect_end : 27023974 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_001023560 Tx_version : 4 Tx_start : 28267142 Tx_end : 28278204 Exon_count : 4 Overlapped_tx_length : 11062 Overlapped_CDS_length : 1440 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28267142 Intersect_end : 28278204 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZSCAN16-AS1Gene_name : ZSCAN16-AS1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 100129195 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_103455 Tx_version : 1 Tx_start : 28121794 Tx_end : 28137316 Exon_count : 3 Overlapped_tx_length : 15522 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28121794 Intersect_end : 28137316 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LINC02980Gene_name : LINC02980; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 123706533 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_186641 Tx_version : 1 Tx_start : 25992666 Tx_end : 26001775 Exon_count : 3 Overlapped_tx_length : 9109 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25992666 Intersect_end : 26001775 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_021066 Tx_version : 3 Tx_start : 27814301 Tx_end : 27814777 Exon_count : 1 Overlapped_tx_length : 476 Overlapped_CDS_length : 387 Overlapped_CDS_percent : 91 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27814301 Intersect_end : 27814777 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003534 Tx_version : 3 Tx_start : 26270917 Tx_end : 26271413 Exon_count : 1 Overlapped_tx_length : 496 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 93 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26270917 Intersect_end : 26271413 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003527 Tx_version : 4 Tx_start : 27893424 Tx_end : 27893891 Exon_count : 1 Overlapped_tx_length : 467 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 88 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27893424 Intersect_end : 27893891 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27885222-27918422 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_021058 Tx_version : 4 Tx_start : 27132315 Tx_end : 27132795 Exon_count : 1 Overlapped_tx_length : 480 Overlapped_CDS_length : 381 Overlapped_CDS_percent : 89 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27132315 Intersect_end : 27132795 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_170745 Tx_version : 3 Tx_start : 25726062 Tx_end : 25726562 Exon_count : 1 Overlapped_tx_length : 500 Overlapped_CDS_length : 396 Overlapped_CDS_percent : 91 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25726062 Intersect_end : 25726562 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
ZSCAN12P1Gene_name : ZSCAN12P1; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 221584 |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_024063 Tx_version : 2 Tx_start : 28090806 Tx_end : 28095715 Exon_count : 2 Overlapped_tx_length : 4909 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28090806 Intersect_end : 28095715 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:28026540-28125186 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003513 Tx_version : 3 Tx_start : 26033091 Tx_end : 26033618 Exon_count : 1 Overlapped_tx_length : 527 Overlapped_CDS_length : 393 Overlapped_CDS_percent : 88 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26033091 Intersect_end : 26033618 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26025922-26045396 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_021052 Tx_version : 4 Tx_start : 26216920 Tx_end : 26217437 Exon_count : 1 Overlapped_tx_length : 517 Overlapped_CDS_length : 393 Overlapped_CDS_percent : 84 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26216920 Intersect_end : 26217437 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_036096 Tx_version : 1 Tx_start : 27147625 Tx_end : 27147688 Exon_count : 1 Overlapped_tx_length : 63 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27147625 Intersect_end : 27147688 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_003529 Tx_version : 3 Tx_start : 26020450 Tx_end : 26020958 Exon_count : 1 Overlapped_tx_length : 508 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 87 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26020450 Intersect_end : 26020958 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : 5'UTR-3'UTR Tx : NM_021018 Tx_version : 3 Tx_start : 26250141 Tx_end : 26250635 Exon_count : 1 Overlapped_tx_length : 494 Overlapped_CDS_length : 411 Overlapped_CDS_percent : 93 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26250141 Intersect_end : 26250635 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:26249043-26250858 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : NM_003510 Tx_version : 3 Tx_start : 27837879 Tx_end : 27838375 Exon_count : 1 Overlapped_tx_length : 496 Overlapped_CDS_length : 393 Overlapped_CDS_percent : 91 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27837879 Intersect_end : 27838375 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27827497-27839980 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:27828961-27841298 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901277Gene_name : LOC124901277; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059507 Tx_version : 1 Tx_start : 24535414 Tx_end : 24540052 Exon_count : 2 Overlapped_tx_length : 4638 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24535414 Intersect_end : 24540052 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC107986530Gene_name : LOC107986530; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059906 Tx_version : 1 Tx_start : 25181024 Tx_end : 25181795 Exon_count : 2 Overlapped_tx_length : 771 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25181024 Intersect_end : 25181795 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:25135836-25318772 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901279Gene_name : LOC124901279; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059509 Tx_version : 1 Tx_start : 24669116 Tx_end : 24683275 Exon_count : 2 Overlapped_tx_length : 14159 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24669116 Intersect_end : 24683275 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901291Gene_name : LOC124901291; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : XR_007059534 Tx_version : 1 Tx_start : 27703134 Tx_end : 27710896 Exon_count : 2 Overlapped_tx_length : 7762 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27703134 Intersect_end : 27710896 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27535526-27745500; chr6:27688307-27805373 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:27696799-27711866 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374973Gene_name : LOC105374973; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_001744026 Tx_version : 2 Tx_start : 22644019 Tx_end : 22660022 Exon_count : 5 Overlapped_tx_length : 16003 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 22644019 Intersect_end : 22660022 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901483Gene_name : LOC124901483; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : 5'UTR-3'UTR Tx : XM_047419653 Tx_version : 1 Tx_start : 21664540 Tx_end : 21666060 Exon_count : 3 Overlapped_tx_length : 1520 Overlapped_CDS_length : 582 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 21664540 Intersect_end : 21666060 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901289Gene_name : LOC124901289; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_007059531 Tx_version : 1 Tx_start : 26787592 Tx_end : 26794826 Exon_count : 4 Overlapped_tx_length : 7234 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26787592 Intersect_end : 26794826 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26665722-26838105; chr6:26665722-26850041; chr6:26730911-26850041 B_gain_AFmax : 0.01 B_loss_source : esv2763937 B_loss_coord : 6:26681694-26995155 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC107986583Gene_name : LOC107986583; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_001744057 Tx_version : 3 Tx_start : 26486648 Tx_end : 26527398 Exon_count : 4 Overlapped_tx_length : 40750 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26486648 Intersect_end : 26527398 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374992Gene_name : LOC105374992; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_926638 Tx_version : 2 Tx_start : 26781145 Tx_end : 26803584 Exon_count : 3 Overlapped_tx_length : 22439 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26781145 Intersect_end : 26803584 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26665722-26838105; chr6:26665722-26850041; chr6:26730911-26850041 B_gain_AFmax : 0.01 B_loss_source : esv2763937 B_loss_coord : 6:26681694-26995155 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901282Gene_name : LOC124901282; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059515 Tx_version : 1 Tx_start : 25121688 Tx_end : 25135191 Exon_count : 3 Overlapped_tx_length : 13503 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25121688 Intersect_end : 25135191 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901287Gene_name : LOC124901287; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_007059520 Tx_version : 1 Tx_start : 26285679 Tx_end : 26298964 Exon_count : 2 Overlapped_tx_length : 13285 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26285679 Intersect_end : 26298964 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105375107Gene_name : LOC105375107; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : 5'UTR-3'UTR Tx : XM_011515048 Tx_version : 2 Tx_start : 27312168 Tx_end : 27313736 Exon_count : 3 Overlapped_tx_length : 1568 Overlapped_CDS_length : 684 Overlapped_CDS_percent : 100 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27312168 Intersect_end : 27313736 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC102724736Gene_name : LOC102724736; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_427895 Tx_version : 4 Tx_start : 22662393 Tx_end : 22674065 Exon_count : 4 Overlapped_tx_length : 11672 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 22662393 Intersect_end : 22674065 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374981Gene_name : LOC105374981; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059514 Tx_version : 1 Tx_start : 24933974 Tx_end : 24950491 Exon_count : 3 Overlapped_tx_length : 16517 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24933974 Intersect_end : 24950491 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901295Gene_name : LOC124901295; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : XR_007059538 Tx_version : 1 Tx_start : 28489729 Tx_end : 28490987 Exon_count : 2 Overlapped_tx_length : 1258 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28489729 Intersect_end : 28490987 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374989Gene_name : LOC105374989; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_187833 Tx_version : 1 Tx_start : 26602732 Tx_end : 26606661 Exon_count : 2 Overlapped_tx_length : 3929 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26602732 Intersect_end : 26606661 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901281Gene_name : LOC124901281; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_007059512 Tx_version : 1 Tx_start : 25327705 Tx_end : 25421292 Exon_count : 3 Overlapped_tx_length : 93587 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25327705 Intersect_end : 25421292 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374991Gene_name : LOC105374991; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_926636 Tx_version : 2 Tx_start : 26698083 Tx_end : 26720541 Exon_count : 3 Overlapped_tx_length : 22458 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26698083 Intersect_end : 26720541 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26665722-26838105; chr6:26665722-26850041; chr6:26688630-26738915 B_gain_AFmax : 0.01 B_loss_source : esv2763937 B_loss_coord : 6:26681694-26995155 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901278Gene_name : LOC124901278; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059508 Tx_version : 1 Tx_start : 24689706 Tx_end : 24695771 Exon_count : 2 Overlapped_tx_length : 6065 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24689706 Intersect_end : 24695771 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374998Gene_name : LOC105374998; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : XR_926659 Tx_version : 2 Tx_start : 28399818 Tx_end : 28404283 Exon_count : 2 Overlapped_tx_length : 4465 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28399818 Intersect_end : 28404283 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC102724851Gene_name : LOC102724851; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_001744059 Tx_version : 3 Tx_start : 26671119 Tx_end : 26687841 Exon_count : 3 Overlapped_tx_length : 16722 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26671119 Intersect_end : 26687841 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26665722-26838105; chr6:26665722-26850041 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC102724749Gene_name : LOC102724749; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : NR_187789 Tx_version : 1 Tx_start : 23337690 Tx_end : 23404141 Exon_count : 8 Overlapped_tx_length : 66451 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 23337690 Intersect_end : 23404141 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124900220Gene_name : LOC124900220; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059946 Tx_version : 1 Tx_start : 24166272 Tx_end : 24166374 Exon_count : 1 Overlapped_tx_length : 102 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24166272 Intersect_end : 24166374 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:24064663-24179744; chr6:24158565-24172815; chr6:24165416-24205513 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901506Gene_name : LOC124901506; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : XR_007059937 Tx_version : 1 Tx_start : 28015567 Tx_end : 28015777 Exon_count : 1 Overlapped_tx_length : 210 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28015567 Intersect_end : 28015777 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901283Gene_name : LOC124901283; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_007059516 Tx_version : 1 Tx_start : 25230234 Tx_end : 25232616 Exon_count : 2 Overlapped_tx_length : 2382 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25230234 Intersect_end : 25232616 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:25135836-25318772 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901280Gene_name : LOC124901280; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059510 Tx_version : 1 Tx_start : 24792798 Tx_end : 24795836 Exon_count : 3 Overlapped_tx_length : 3038 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 24792798 Intersect_end : 24795836 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901293Gene_name : LOC124901293; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : XR_007059536 Tx_version : 1 Tx_start : 27217665 Tx_end : 27218761 Exon_count : 2 Overlapped_tx_length : 1096 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27217665 Intersect_end : 27218761 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:27207088-27239384 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901290Gene_name : LOC124901290; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_007059532 Tx_version : 1 Tx_start : 26815126 Tx_end : 26842925 Exon_count : 4 Overlapped_tx_length : 27799 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26815126 Intersect_end : 26842925 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26665722-26850041; chr6:26730911-26850041 B_gain_AFmax : 0.01 B_loss_source : esv2763937 B_loss_coord : 6:26681694-26995155 B_loss_AFmax : 0.0100 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC107986586Gene_name : LOC107986586; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : XR_001744073 Tx_version : 2 Tx_start : 28543060 Tx_end : 28544997 Exon_count : 3 Overlapped_tx_length : 1937 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28543060 Intersect_end : 28544997 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374971Gene_name : LOC105374971; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_001744025 Tx_version : 1 Tx_start : 22390978 Tx_end : 22590314 Exon_count : 8 Overlapped_tx_length : 199336 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 22390978 Intersect_end : 22590314 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC102724765Gene_name : LOC102724765; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : NR_187802 Tx_version : 1 Tx_start : 25014951 Tx_end : 25036141 Exon_count : 3 Overlapped_tx_length : 21190 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25014951 Intersect_end : 25036141 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901285Gene_name : LOC124901285; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_007059518 Tx_version : 1 Tx_start : 25836153 Tx_end : 25860194 Exon_count : 2 Overlapped_tx_length : 24041 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25836153 Intersect_end : 25860194 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901288Gene_name : LOC124901288; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_007059522 Tx_version : 1 Tx_start : 26331817 Tx_end : 26340285 Exon_count : 2 Overlapped_tx_length : 8468 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26331817 Intersect_end : 26340285 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26319182-26368254 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901292Gene_name : LOC124901292; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : XR_007059535 Tx_version : 1 Tx_start : 27666971 Tx_end : 27668573 Exon_count : 2 Overlapped_tx_length : 1602 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27666971 Intersect_end : 27668573 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27535526-27745500; chr6:27650582-27702362; chr6:27661220-27678121; chr6:27661236-27692521; chr6:27666701-27680455 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901284Gene_name : LOC124901284; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_007059517 Tx_version : 1 Tx_start : 25681872 Tx_end : 25698974 Exon_count : 2 Overlapped_tx_length : 17102 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25681872 Intersect_end : 25698974 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC101928663Gene_name : LOC101928663; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_110862 Tx_version : 1 Tx_start : 25244915 Tx_end : 25261407 Exon_count : 4 Overlapped_tx_length : 16492 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 25244915 Intersect_end : 25261407 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:25135836-25318772 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374986Gene_name : LOC105374986; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_001744053 Tx_version : 2 Tx_start : 26257499 Tx_end : 26261928 Exon_count : 2 Overlapped_tx_length : 4429 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26257499 Intersect_end : 26261928 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC285819Gene_name : LOC285819; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_038992 Tx_version : 1 Tx_start : 26471943 Tx_end : 26482509 Exon_count : 4 Overlapped_tx_length : 10566 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26471943 Intersect_end : 26482509 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374974Gene_name : LOC105374974; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_926583 Tx_version : 3 Tx_start : 23056296 Tx_end : 23177045 Exon_count : 3 Overlapped_tx_length : 120749 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 23056296 Intersect_end : 23177045 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901294Gene_name : LOC124901294; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : XR_007059537 Tx_version : 1 Tx_start : 28485428 Tx_end : 28489490 Exon_count : 2 Overlapped_tx_length : 4062 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 28485428 Intersect_end : 28489490 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105375001Gene_name : LOC105375001; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : XR_926664 Tx_version : 4 Tx_start : 27473123 Tx_end : 27475980 Exon_count : 2 Overlapped_tx_length : 2857 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27473123 Intersect_end : 27475980 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC100131289Gene_name : LOC100131289; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.1 Location2 : UTR Tx : NR_038929 Tx_version : 1 Tx_start : 27761743 Tx_end : 27763187 Exon_count : 3 Overlapped_tx_length : 1444 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 27761743 Intersect_end : 27763187 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:27688307-27805373 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC101928743Gene_name : LOC101928743; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : XR_241992 Tx_version : 5 Tx_start : 26324872 Tx_end : 26331958 Exon_count : 3 Overlapped_tx_length : 7086 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26324872 Intersect_end : 26331958 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:26314329-26337911; chr6:26319182-26368254 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374988Gene_name : LOC105374988; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.2 Location2 : UTR Tx : NR_134611 Tx_version : 1 Tx_start : 26569323 Tx_end : 26574698 Exon_count : 2 Overlapped_tx_length : 5375 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 26569323 Intersect_end : 26574698 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374970Gene_name : LOC105374970; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_926573 Tx_version : 4 Tx_start : 21825779 Tx_end : 21828383 Exon_count : 3 Overlapped_tx_length : 2604 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 21825779 Intersect_end : 21828383 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:21822605-21828571; chr6:21825572-21834169; chr6:21825585-21834264 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374976Gene_name : LOC105374976; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_001744046 Tx_version : 2 Tx_start : 23336745 Tx_end : 23626334 Exon_count : 7 Overlapped_tx_length : 289589 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 23336745 Intersect_end : 23626334 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901276Gene_name : LOC124901276; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059506 Tx_version : 1 Tx_start : 23452999 Tx_end : 23455137 Exon_count : 2 Overlapped_tx_length : 2138 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 23452999 Intersect_end : 23455137 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:23435435-23456229 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901274Gene_name : LOC124901274; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059492 Tx_version : 1 Tx_start : 21754699 Tx_end : 21755639 Exon_count : 2 Overlapped_tx_length : 940 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 21754699 Intersect_end : 21755639 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105374975Gene_name : LOC105374975; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_001744048 Tx_version : 2 Tx_start : 23416074 Tx_end : 23452922 Exon_count : 3 Overlapped_tx_length : 36848 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 23416074 Intersect_end : 23452922 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC124901275Gene_name : LOC124901275; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-txEndLocation : txStart-txEnd CytoBand : p22.3 Location2 : UTR Tx : XR_007059494 Tx_version : 1 Tx_start : 22200988 Tx_end : 22205065 Exon_count : 2 Overlapped_tx_length : 4077 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : . Nearest_SS_type : . Intersect_start : 22200988 Intersect_end : 22205065 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr6:22158890-22229052 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : . Gene_count : 1 |
fullAnnotation_mode : full |
PGBD5Gene_name : PGBD5; LOEUF_bin : 3 GnomAD_pLI : 2.1166e-03 ExAC_pLI : 2.8063e-02 HI : . TS : . DDD_HI_percent : 48.19 ExAC_cnvZ : 0.500085368762409 ExAC_delZ : 0.642279723332434 ExAC_dupZ : 0.249131977039584 ExAC_synZ : -0.737773347498986 ExAC_misZ : 1.46623417955869 Closest_left : LOC124904542 Closest_right : LOC124904543 |
.Location : . CytoBand : q42.13 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6371Exomiser_gene_pheno_score : 0.6371 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15777262; dbVar:nssv15151024; dbVar:nssv18326443; dbVar:nssv16207620; dbVar:nssv15146793; dbVar:nssv15147003; dbVar:nssv15146656; dbVar:nssv16215284; dbVar:nssv15145669; dbVar:nssv15154064; dbVar:nssv16206530; dbVar:nssv15146178; dbVar:nssv18329268; dbVar:nssv15147314; dbVar:nssv15147005; dbVar:nssv15146390; dbVar:nssv15150211; dbVar:nssv15147383; dbVar:nssv15146391; dbVar:nssv15126459; dbVar:nssv15146018; dbVar:nssv18330595; dbVar:nssv15156411; dbVar:nssv16206538; dbVar:nssv15147341 po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:182419639-248817041; 1:195514310-248918801; 1:197898785-248930485; 1:204076821-248924793; 1:207346643-248930485; 1:209646208-248931113; 1:209963626-248918469; 1:209979450-248924793; 1:214023813-248918469; 1:218079210-248930485; 1:219743625-238841078; 1:223347694-248918469; 1:223785238-248930485; 1:223815148-248918469; 1:223828501-248891309; 1:223887781-248891309; 1:223917593-248930485; 1:224022863-248918469; 1:224096489-248918469; 1:224862286-248938897; 1:225438481-248787200; 1:227805228-236496605; 1:228342273-248887399; 1:228696991-240830577; 1:229022910-248918469 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.01; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16207762; dbVar:nssv15146761; dbVar:nssv17969414; dbVar:nssv15147312; dbVar:nssv17969425; dbVar:nssv18790855; dbVar:nssv18788500; nssv18789839; dbVar:nssv15146215; dbVar:nssv18842031 po_P_loss_coord : 1:223480381-234456061; 1:225382173-230418801; 1:225943991-231772481; 1:226185125-232872488; 1:228027212-231347792; 1:229431500-231277542; 1:230067282-231277542; 1:230106272-243677283; 1:230178122-243646135 po_P_loss_percent : 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.06; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 1:230332011-230332053 Repeat_type_left : (AC)n Gap_left : . GC_content_left : 0.475 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.650 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
PGBD5Gene_name : PGBD5; LOEUF_bin : 3 GnomAD_pLI : 2.1166e-03 ExAC_pLI : 2.8063e-02 HI : . TS : . DDD_HI_percent : 48.19 ACMG : . ExAC_cnvZ : 0.500085368762409 ExAC_delZ : 0.642279723332434 ExAC_dupZ : 0.249131977039584 ExAC_synZ : -0.737773347498986 ExAC_misZ : 1.46623417955869 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 79605 |
intron5-intron5Location : intron5-intron5 CytoBand : q42.13 Location2 : CDS Tx : NM_001258311 Tx_version : 2 Tx_start : 230314489 Tx_end : 230426332 Exon_count : 7 Overlapped_tx_length : 701 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 103 Nearest_SS_type : 5' Intersect_start : 230332039 Intersect_end : 230332740 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.6371Exomiser_gene_pheno_score : 0.6371 Human_pheno_evidence : . Mouse_pheno_evidence : Brachydactyly; Craniosynostosis; abnormal sternum morphology; anophthalmia Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 71 Gene_count : 1 |
fullAnnotation_mode : full |
SRP54Gene_name : SRP54; LOEUF_bin : 0 GnomAD_pLI : 9.9895e-01 ExAC_pLI : 9.9669e-01 HI : . TS : . DDD_HI_percent : 5.86 ExAC_cnvZ : -0.412776867653258 ExAC_delZ : 1.03488143591068 ExAC_dupZ : -0.993394402600268 ExAC_synZ : 0.251139859379423 ExAC_misZ : 3.4941819010966 Closest_left : IGBP1P1 Closest_right : FAM177A1 |
.Location : . CytoBand : q13.2 |
0.4383Exomiser_gene_pheno_score : 0.4383 |
DPhenoGenius_specificity : D |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15146564; dbVar:nssv15146758; dbVar:nssv16207193; dbVar:nssv17976958; dbVar:nssv15148269; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv15146403 po_P_gain_coord : 14:18223946-106880863; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:20000612-38984415; 14:20022694-44093672; 14:20043514-44359827; 14:20043514-47012000; 14:20043514-48642042; 14:20043515-106877229; 14:20151150-106855263; 14:30670315-44990595 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15145699; dbVar:nssv17976070; dbVar:nssv15145700; dbVar:nssv15148040; dbVar:nssv15146746; dbVar:nssv16867366; dbVar:nssv15125670; dbVar:nssv15148193; dbVar:nssv18786359 po_P_loss_coord : 14:20196946-45284802; 14:20694105-50246884; 14:23548961-41983402; 14:30382555-37712341; 14:30792272-44685131; 14:33139720-44101164; 14:33579942-48879620; 14:33880413-42359485; 14:34435202-36314930 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 14:34988283-34988578; 14:34988579-34988620 Repeat_type_left : AluSc; (AT)n Gap_left : . GC_content_left : 0.325 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 14:34988283-34988578; 14:34988579-34988620 Repeat_type_right : AluSc; (AT)n Gap_right : . GC_content_right : 0.330 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 71 |
splitAnnotation_mode : split |
SRP54Gene_name : SRP54; LOEUF_bin : 0 GnomAD_pLI : 9.9895e-01 ExAC_pLI : 9.9669e-01 HI : . TS : . DDD_HI_percent : 5.86 ACMG : . ExAC_cnvZ : -0.412776867653258 ExAC_delZ : 1.03488143591068 ExAC_dupZ : -0.993394402600268 ExAC_synZ : 0.251139859379423 ExAC_misZ : 3.4941819010966 GenCC_disease : Shwachman-Diamond syndrome; autosomal dominant severe congenital neutropenia; neutropenia, severe congenital, 8, autosomal dominant GenCC_moi : AD; AR GenCC_classification : Strong; Supportive GenCC_pmid : 28972538; 28972538[PMID]; 29914977; 29914977[PMID]; 29956078; 33839879; 34549814 NCBI_gene_ID : 6729 |
intron1-intron1Location : intron1-intron1 CytoBand : q13.2 Location2 : 5'UTR Tx : NM_001146282 Tx_version : 2 Tx_start : 34982991 Tx_end : 35029567 Exon_count : 15 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5363 Nearest_SS_type : 5' Intersect_start : 34988578 Intersect_end : 34988579 |
0.4383Exomiser_gene_pheno_score : 0.4383 Human_pheno_evidence : Abnormal finger morphology; Brachydactyly; Shwachman-Diamond syndrome Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.03 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 1 |
fullAnnotation_mode : full |
KRT18Gene_name : KRT18; LOEUF_bin : 2 GnomAD_pLI : 7.3477e-01 ExAC_pLI : 6.2478e-01 HI : . TS : . DDD_HI_percent : 24.42 ExAC_cnvZ : -2.08591281464869 ExAC_delZ : -1.70705765244577 ExAC_dupZ : -2.35370767181841 ExAC_synZ : 0.293810969850224 ExAC_misZ : 2.35097474085048 Closest_left : MIR9898 Closest_right : EIF4B |
.Location : . CytoBand : q13.13 |
0.0000Exomiser_gene_pheno_score : 0.0000 |
DPhenoGenius_specificity : D |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv15147395 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:52851851-53558824 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : Cirrhosis, cryptogenic, 215600 (3) AR; Cirrhosis, noncryptogenic, susceptibility to, 215600 (3) AR po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15139461; morbid:KRT18 po_P_loss_coord : 12:50122360-53248460; 12:52949118-52952906 po_P_loss_percent : 0.00; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.535 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.535 |
||
full=NAACMG_class : full=NA |
TRASV_type : TRA SV_length : 0 |
splitAnnotation_mode : split |
KRT18Gene_name : KRT18; LOEUF_bin : 2 GnomAD_pLI : 7.3477e-01 ExAC_pLI : 6.2478e-01 HI : . TS : . DDD_HI_percent : 24.42 ACMG : . ExAC_cnvZ : -2.08591281464869 ExAC_delZ : -1.70705765244577 ExAC_dupZ : -2.35370767181841 ExAC_synZ : 0.293810969850224 ExAC_misZ : 2.35097474085048 GenCC_disease : cirrhosis, familial GenCC_moi : AR GenCC_classification : Limited GenCC_pmid : 8522591 NCBI_gene_ID : 3875 |
exon3-exon3Location : exon3-exon3 CytoBand : q13.13 Location2 : CDS Tx : NM_199187 Tx_version : 2 Tx_start : 52948854 Tx_end : 52952906 Exon_count : 8 Overlapped_tx_length : 1 Overlapped_CDS_length : 1 Overlapped_CDS_percent : 0 Frameshift : yes Dist_nearest_SS : 12 Nearest_SS_type : 5' Intersect_start : 52950397 Intersect_end : 52950398 |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
DPhenoGenius_specificity : D PhenoGenius_phenotype : . PhenoGenius_score : 0.02 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 86 Gene_count : 1 |
fullAnnotation_mode : full |
MRPL42Gene_name : MRPL42; LOEUF_bin : 6 GnomAD_pLI : 3.9597e-02 ExAC_pLI : 2.7882e-02 HI : . TS : . DDD_HI_percent : 36.74 ExAC_cnvZ : 1.41854434711091 ExAC_delZ : 0.993345016246907 ExAC_dupZ : 1.21316360484147 ExAC_synZ : -0.568423582088697 ExAC_misZ : -0.203592200373667 Closest_left : UBE2N Closest_right : LOC124902985 |
.Location : . CytoBand : q22 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv15137772 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:91044319-109133210 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15775824; dbVar:nssv15136150 po_P_loss_coord : 12:77343844-93936750; 12:90996509-94872818 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr12:93483144-93485028 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr12:93483144-93485028 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr12:90450660-95571272 gnomAD-SV_v3_DEL_chr12_bbc157a2 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 12:93484612-93484897; 12:93484962-93484979; 12:93484980-93485028; 12:93485032-93485152 Repeat_type_left : AluSx; (AC)n; (AT)n; AluJo Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 12:93484612-93484897; 12:93484962-93484979; 12:93484980-93485028; 12:93485032-93485152 Repeat_type_right : AluSx; (AC)n; (AT)n; AluJo Gap_right : . GC_content_right : 0.365 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 86 |
splitAnnotation_mode : split |
MRPL42Gene_name : MRPL42; LOEUF_bin : 6 GnomAD_pLI : 3.9597e-02 ExAC_pLI : 2.7882e-02 HI : . TS : . DDD_HI_percent : 36.74 ACMG : . ExAC_cnvZ : 1.41854434711091 ExAC_delZ : 0.993345016246907 ExAC_dupZ : 1.21316360484147 ExAC_synZ : -0.568423582088697 ExAC_misZ : -0.203592200373667 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 28977 |
intron4-intron4Location : intron4-intron4 CytoBand : q22 Location2 : CDS Tx : NM_014050 Tx_version : 4 Tx_start : 93467513 Tx_end : 93516214 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 2524 Nearest_SS_type : 3' Intersect_start : 93484971 Intersect_end : 93484972 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr12:93483144-93485028 B_gain_AFmax : 0.01 B_loss_source : gnomAD-SV_v3_DEL_chr12_bbc157a2 B_loss_coord : chr12:90450660-95571272 B_loss_AFmax : 0.7257 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 72 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q14.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15171776; dbVar:nssv16207107 po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:83468154-94983834; 11:85119100-92296767 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15161308; dbVar:nssv17969476; dbVar:nssv15161277; dbVar:nssv15157249; dbVar:nssv17969477; dbVar:nssv18329245; dbVar:nssv15131270; dbVar:nssv17969478; dbVar:nssv15145765; dbVar:nssv15150613; dbVar:nssv15125487 po_P_loss_coord : 11:11814023-118502397; 11:75941755-98357960; 11:78144164-98131717; 11:78232837-106779420; 11:80342411-113445514; 11:80607953-96383057; 11:81767468-104796313; 11:82060811-91118019; 11:85213631-93841633; 11:85242848-102920097; 11:88419291-109543924; 11:88423396-114620616 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
IMH; dbVar; gnomAD-SV_v3_DUP_chr11_207a25f1B_gain_source : IMH; dbVar; gnomAD-SV_v3_DUP_chr11_207a25f1 B_gain_coord : chr11:85116816-92300786; chr11:90142831-90204832; 11:90159908-90159999; chr11:90159916-90160137 B_gain_AFmax : 0.1100 B_loss_source : dbVar B_loss_coord : chr11:90119031-90173537 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr11:90142831-90204832 dbVar; chr11:90159916-90160137 gnomAD-SV_v3_DUP_chr11_207a25f1 po_B_gain_someG_coord : chr11:85116816-92300786 dbVar; 11:90159908-90159999 IMH po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr11:90119031-90173537 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:90159671-90159976 Repeat_type_left : AluSp Gap_left : . GC_content_left : 0.385 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:90159671-90159976 Repeat_type_right : AluSp Gap_right : . GC_content_right : 0.380 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 72 |
splitAnnotation_mode : split |
NAALAD2Gene_name : NAALAD2; LOEUF_bin : 6 GnomAD_pLI : 1.4282e-20 ExAC_pLI : 7.0245e-15 HI : . TS : . DDD_HI_percent : 55.11 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : -0.80644307778252 ExAC_misZ : -0.380026508216263 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 10003 |
intron10-intron10Location : intron10-intron10 CytoBand : q14.3 Location2 : CDS Tx : XM_017017043 Tx_version : 3 Tx_start : 90131698 Tx_end : 90192894 Exon_count : 21 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 652 Nearest_SS_type : 5' Intersect_start : 90159989 Intersect_end : 90159990 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
IMH; dbVar; gnomAD-SV_v3_DUP_chr11_207a25f1B_gain_source : IMH; dbVar; gnomAD-SV_v3_DUP_chr11_207a25f1 B_gain_coord : chr11:85116816-92300786; chr11:90142831-90204832; 11:90159908-90159999; chr11:90159916-90160137 B_gain_AFmax : 0.1100 B_loss_source : dbVar B_loss_coord : chr11:90119031-90173537 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p15.4 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161344; dbVar:nssv15171978; dbVar:nssv15605781; dbVar:nssv15158476; dbVar:nssv15153879; dbVar:nssv15150768; dbVar:nssv17976735; dbVar:nssv15150821; dbVar:nssv15149913; dbVar:nssv15153876; dbVar:nssv15150306; nssv15150623; dbVar:nssv16208290; dbVar:nssv15161310; dbVar:nssv15153870 po_P_gain_coord : 11:61794-10727969; 11:70865-135068576; 11:193147-12621589; 11:198511-135064169; 11:230616-17077666; 11:230616-25562816; 11:230616-26859599; 11:230616-31973673; 11:230616-37676990; 11:230616-9682964; 11:230617-135068576; 11:235935-33805449; 11:446755-18904742; 11:6947783-9235684 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:1_pbsv.SPLIT.DUP.249B_gain_source : CMRI:1_pbsv.SPLIT.DUP.249 B_gain_coord : 11:8818099-8979569 B_gain_AFmax : 0.0319 B_loss_source : gnomAD-SV_v3_DEL_chr11_f71dd9b5 B_loss_coord : chr11:8142635-35706287 B_loss_AFmax : 0.0480 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : 11:8818099-8979569 CMRI:1_pbsv.SPLIT.DUP.249 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr11:8142635-35706287 gnomAD-SV_v3_DEL_chr11_f71dd9b5 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 11:8817980-8818262 Repeat_type_left : AluSx1 Gap_left : . GC_content_left : 0.545 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 11:8817980-8818262 Repeat_type_right : AluSx1 Gap_right : . GC_content_right : 0.540 |
||
full=NAACMG_class : full=NA |
TRASV_type : TRA SV_length : 0 |
splitAnnotation_mode : split |
intron2-intron2Location : intron2-intron2 CytoBand : p15.4 Location2 : UTR Tx : NR_164814 Tx_version : 1 Tx_start : 8693351 Tx_end : 8835758 Exon_count : 20 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 6780 Nearest_SS_type : 3' Intersect_start : 8818115 Intersect_end : 8818116 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
CMRI:1_pbsv.SPLIT.DUP.249B_gain_source : CMRI:1_pbsv.SPLIT.DUP.249 B_gain_coord : 11:8818099-8979569 B_gain_AFmax : 0.0319 B_loss_source : gnomAD-SV_v3_DEL_chr11_f71dd9b5 B_loss_coord : chr11:8142635-35706287 B_loss_AFmax : 0.0480 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 69 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : q16.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148895; dbVar:nssv15152931 po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:74382808-142040500; 6:80551702-97348393 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15133711; dbVar:nssv17970123; dbVar:nssv17970126; dbVar:nssv17970127; dbVar:nssv15151866; dbVar:nssv15152934; dbVar:nssv16216866; dbVar:nssv18330783 po_P_loss_coord : 6:83838304-98822313; 6:85278711-120227541; 6:91345174-118008488; 6:91867233-104210370; 6:93492888-109557631; 6:94840234-116363766; 6:95567163-96814793; 6:96148857-105106693 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:96494375-96500000 Repeat_type_left : L1PA6 Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:96494375-96500000 Repeat_type_right : L1PA6 Gap_right : . GC_content_right : 0.370 |
||
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 69 |
splitAnnotation_mode : split |
intron1-intron1Location : intron1-intron1 CytoBand : q16.1 Location2 : UTR Tx : XR_007059687 Tx_version : 1 Tx_start : 96200342 Tx_end : 96521714 Exon_count : 4 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 14810 Nearest_SS_type : 5' Intersect_start : 96497728 Intersect_end : 96497729 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
||
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INVSV_type : INV SV_length : 5390 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105377862Gene_name : LOC105377862; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124901345 Closest_right : LOC101928570 |
.Location : . CytoBand : q14.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15606075; dbVar:nssv17970109; dbVar:nssv15148895 po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:29487689-80737650; 6:69228361-93669492; 6:74382808-142040500 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.01; 0.02; 0.01 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17976865; dbVar:nssv15138420; dbVar:nssv17957115; dbVar:nssv17956905; dbVar:nssv15154430; dbVar:nssv16255333; dbVar:nssv15139907 po_P_loss_coord : 6:64244795-78871961; 6:64549656-83426791; 6:69455405-79211052; 6:72089352-82566177; 6:72964890-84120055; 6:73516837-79498320; 6:75926200-92710793 po_P_loss_percent : 0.04; 0.03; 0.06; 0.05; 0.05; 0.09; 0.03 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:76952355-77077360 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:76911804-77118953 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr6:77005072-77013775 dbVar po_B_gain_someG_coord : chr6:76952355-77077360 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr6:76911804-77118953 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 6:76998882-76999973; 6:77000010-77000510 Repeat_type_left : L1M5; L1ME2 Gap_left : . GC_content_left : 0.310 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 6:77005450-77008031 Repeat_type_right : L1MB1 Gap_right : . GC_content_right : 0.295 |
|
full=NAACMG_class : full=NA |
INVSV_type : INV SV_length : 5390 |
splitAnnotation_mode : split |
LOC105377862Gene_name : LOC105377862; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron2-intron2Location : intron2-intron2 CytoBand : q14.1 Location2 : UTR Tx : NR_187980 Tx_version : 1 Tx_start : 76774949 Tx_end : 77097788 Exon_count : 4 Overlapped_tx_length : 5391 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 67823 Nearest_SS_type : 3' Intersect_start : 76999999 Intersect_end : 77005390 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr6:76952355-77077360 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr6:76911804-77118953 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 1 |
fullAnnotation_mode : full |
.Location : . CytoBand : p21.32 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161578; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15606075; dbVar:nssv16206814 po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156975-46789291; 6:156976-170610394; 6:165633-170610382; 6:29487689-80737650; 6:31068621-34121055 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:20362; DDD:20376; DDD:20377; IMH; dbVarB_gain_source : DDD:20362; DDD:20376; DDD:20377; IMH; dbVar B_gain_coord : 6:32456665-32717497; chr6:32483478-32517677; chr6:32483478-32517875; chr6:32483478-32518074; chr6:32483478-32518920; chr6:32483478-32524450; chr6:32483478-32526977; 6:32485000-32545095; 6:32501635-32524304; 6:32506644-32611161 B_gain_AFmax : 0.2071 B_loss_source : CMRI:1_pbsv.DEL.547_duplicate4; CMRI:2_pbsv.DEL.704_duplicate4; DDD:20362; DDD:20367; DDD:20368; DDD:20376; DDD:20377; HI40:ISCA-46609; HPRC:pbsv.DEL.2702; IMH; dgv10500n54; dgv1100e199; dgv1101e199; dgv1104e199; esv2422111; esv3890830; gnomAD-SV_v3_DEL_chr6_0a9534bd; gnomAD-SV_v3_DEL_chr6_f0914d13; nsv514350 B_loss_coord : chr6:31328328-33520997; 6:32456665-32717497; 6:32471468-32603047; 6:32473028-32589256; 6:32476122-32565413; 6:32484257-32517715; chr6:32485202-32573526; 6:32486309-32534355; 6:32486419-32549915; 6:32486499-32604184; 6:32486736-32533522; 6:32486907-32573523; 6:32487462-32525353; 6:32487706-32522155; 6:32501635-32524304; 6:32506644-32611161; 6:32508080-32546462; 6:32510928-32549678; chr6:32513849-32575874 B_loss_AFmax : 0.4800 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr6:32483478-32517677 dbVar; chr6:32483478-32518074 dbVar; chr6:32483478-32524450 dbVar; 6:32485000-32545095 IMH; 6:32506644-32611161 DDD:20377 po_B_gain_someG_coord : 6:32456665-32717497 DDD:20362; chr6:32483478-32517875 dbVar; chr6:32483478-32518920 dbVar; chr6:32483478-32526977 dbVar; 6:32501635-32524304 DDD:20376 po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 6:32456665-32717497 DDD:20362; 6:32473028-32589256 dgv1100e199; 6:32484257-32517715 esv3890830; 6:32486309-32534355 CMRI:2_pbsv.DEL.704_duplicate4; 6:32486499-32604184 esv2422111; 6:32486907-32573523 CMRI:1_pbsv.DEL.547_duplicate4; 6:32487706-32522155 dgv10500n54; 6:32506644-32611161 DDD:20377; 6:32510928-32549678 dgv1104e199; po_B_loss_someG_coord : chr6:31328328-33520997 gnomAD-SV_v3_DEL_chr6_f0914d13; 6:32471468-32603047 DDD:20367; 6:32476122-32565413 IMH; chr6:32485202-32573526 HPRC:pbsv.DEL.2702; 6:32486419-32549915 dgv1101e199; 6:32486736-32533522 DDD:20368; 6:32487462-32525353 nsv514350; 6:32501635-32524304 DDD:20376; 6:32508080-32546462 HI40:ISCA-46609; chr6:32513849-32575874 gnomAD-SV_v3_DEL_chr6_0a9534bd |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 6:32510319-32531139 Repeat_coord_left : 6:32517198-32517317; 6:32517363-32517391 Repeat_type_left : L1MA8; (T)n Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 6:32510319-32531139 Repeat_coord_right : 6:32517198-32517317; 6:32517363-32517391 Repeat_type_right : L1MA8; (T)n Gap_right : . GC_content_right : 0.365 |
||
full=NAACMG_class : full=NA |
TRASV_type : TRA SV_length : 0 |
splitAnnotation_mode : split |
HLA-DRB5Gene_name : HLA-DRB5; LOEUF_bin : 9 GnomAD_pLI : 3.6359e-07 ExAC_pLI : 3.2273e-03 HI : . TS : . DDD_HI_percent : 73.74 ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : 2.33694785555354 ExAC_misZ : 0.996588079530003 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 3127 |
exon6-exon6Location : exon6-exon6 CytoBand : p21.32 Location2 : 3'UTR Tx : NM_002125 Tx_version : 4 Tx_start : 32517352 Tx_end : 32530287 Exon_count : 6 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 358 Nearest_SS_type : 3' Intersect_start : 32517393 Intersect_end : 32517394 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
DDD:20362; DDD:20376; DDD:20377; IMH; dbVarB_gain_source : DDD:20362; DDD:20376; DDD:20377; IMH; dbVar B_gain_coord : 6:32456665-32717497; chr6:32483478-32517677; chr6:32483478-32517875; chr6:32483478-32518074; chr6:32483478-32518920; chr6:32483478-32524450; chr6:32483478-32526977; 6:32485000-32545095; 6:32501635-32524304; 6:32506644-32611161 B_gain_AFmax : 0.2071 B_loss_source : CMRI:1_pbsv.DEL.547_duplicate4; CMRI:2_pbsv.DEL.704_duplicate4; DDD:20362; DDD:20367; DDD:20368; DDD:20376; DDD:20377; HI40:ISCA-46609; HPRC:pbsv.DEL.2702; IMH; dgv10500n54; dgv1100e199; dgv1101e199; dgv1104e199; esv2422111; esv3890830; gnomAD-SV_v3_DEL_chr6_0a9534bd; gnomAD-SV_v3_DEL_chr6_f0914d13; nsv514350 B_loss_coord : chr6:31328328-33520997; 6:32456665-32717497; 6:32471468-32603047; 6:32473028-32589256; 6:32476122-32565413; 6:32484257-32517715; chr6:32485202-32573526; 6:32486309-32534355; 6:32486419-32549915; 6:32486499-32604184; 6:32486736-32533522; 6:32486907-32573523; 6:32487462-32525353; 6:32487706-32522155; 6:32501635-32524304; 6:32506644-32611161; 6:32508080-32546462; 6:32510928-32549678; chr6:32513849-32575874 B_loss_AFmax : 0.4800 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : . Gene_count : 1 |
fullAnnotation_mode : full |
SERINC5Gene_name : SERINC5; LOEUF_bin : 4 GnomAD_pLI : 6.6351e-06 ExAC_pLI : 8.3990e-04 HI : . TS : . DDD_HI_percent : 55.33 ExAC_cnvZ : 0.192868311646413 ExAC_delZ : -0.442492579470342 ExAC_dupZ : 0.531402562096017 ExAC_synZ : -1.67872659959894 ExAC_misZ : 0.800104915045169 Closest_left : LOC124901201 Closest_right : LOC644936 |
.Location : . CytoBand : q14.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
DHFR (morbid/RE=GH_promoter_enhancer); RE_gene : DHFR (morbid/RE=GH_promoter_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15164765; dbVar:nssv15151111; nssv15151221; dbVar:nssv16206767; dbVar:nssv15120567 po_P_gain_coord : 5:13649-181478028; 5:25330-181266343; 5:113463-181292788; 5:73494237-98143166; 5:74163187-110809453 po_P_gain_percent : 0.01; 0.01; 0.01; 0.04; 0.03 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15151179 po_P_loss_coord : 5:17628633-177148719 po_P_loss_percent : 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; dgv1108e214B_gain_source : dbVar; dgv1108e214 B_gain_coord : chr5:79938116-80691032; 5:80166804-80387438 B_gain_AFmax : 0.5000 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : 5:80166804-80387438 dgv1108e214; chr5:80261569-80268701 dbVar po_B_gain_someG_coord : chr5:79938116-80691032 dbVar; chr5:80252235-80264017 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 5:80261369-80261683 CMRI:2_pbsv.DEL.1435_duplicate2; chr5:80261369-80261683 dbVar; chr5:80261380-80261683 dbVar; po_B_loss_someG_coord : chr5:80238295-80255108 dbVar; chr5:80261369-80261683 HPRC:pbsv.DEL.6411; 5:80261370-80261683 esv2662609; chr5:80261380-80261683 gnomAD-SV_v3_DEL_chr5_af605a0a |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 5:80251747-80251901 Repeat_type_left : LTR82B Gap_left : . GC_content_left : 0.450 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.280 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
SERINC5Gene_name : SERINC5; LOEUF_bin : 4 GnomAD_pLI : 6.6351e-06 ExAC_pLI : 8.3990e-04 HI : . TS : . DDD_HI_percent : 55.33 ACMG : . ExAC_cnvZ : 0.192868311646413 ExAC_delZ : -0.442492579470342 ExAC_dupZ : 0.531402562096017 ExAC_synZ : -1.67872659959894 ExAC_misZ : 0.800104915045169 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 256987 |
txStart-intron1Location : txStart-intron1 CytoBand : q14.1 Location2 : 5'UTR-CDS Tx : NM_001174071 Tx_version : 3 Tx_start : 80111224 Tx_end : 80256048 Exon_count : 13 Overlapped_tx_length : 4150 Overlapped_CDS_length : 27 Overlapped_CDS_percent : 2 Frameshift : no Dist_nearest_SS : 3997 Nearest_SS_type : 5' Intersect_start : 80251898 Intersect_end : 80256048 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVar; dgv1108e214B_gain_source : dbVar; dgv1108e214 B_gain_coord : chr5:79938116-80691032; 5:80166804-80387438 B_gain_AFmax : 0.5000 B_loss_source : . B_loss_coord : . B_loss_AFmax : . |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 55 Gene_count : 1 |
fullAnnotation_mode : full |
MCF2L2Gene_name : MCF2L2; LOEUF_bin : 4 GnomAD_pLI : 1.1565e-24 ExAC_pLI : 1.6127e-12 HI : . TS : . DDD_HI_percent : 63.45 ExAC_cnvZ : -0.502634800387437 ExAC_delZ : -2.00231703714954 ExAC_dupZ : 0.40280827112354 ExAC_synZ : 1.17753738225999 ExAC_misZ : 0.366004400627627 Closest_left : LOC107986160 Closest_right : SNHG33 |
.Location : . CytoBand : q27.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 |
.PhenoGenius_specificity : . |
MCCC1 (morbid/RE=EA_enhancer); RE_gene : MCCC1 (morbid/RE=EA_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148025; dbVar:nssv15147564; dbVar:nssv15146977; dbVar:nssv15145927; dbVar:nssv15147555; dbVar:nssv15147518; dbVar:nssv15145707; dbVar:nssv15149548; dbVar:nssv15148262; dbVar:nssv15147549; dbVar:nssv15146719; dbVar:nssv16207928; dbVar:nssv18326383; dbVar:nssv15164224; dbVar:nssv17955953; dbVar:nssv15147464; dbVar:nssv15148839; dbVar:nssv15142547; dbVar:nssv15147600; dbVar:nssv15153539 po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:103426883-198110178; 3:143276179-193279426; 3:147521893-198096565; 3:152100513-198118383; 3:156118442-198125115; 3:156321879-198113452; 3:157293379-198134727; 3:159262843-198040019; 3:166137210-198125115; 3:167717963-188365272; 3:168167569-198110178; 3:169899903-190876065; 3:171831632-198235559; 3:173563477-198111391; 3:175401411-187874692; 3:176168526-198118383; 3:176439912-198118383; 3:177528706-198110178; 3:177772524-185716872; 3:182821447-198125115 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv16297147; dbVar:nssv15146004; dbVar:nssv18326464; dbVar:nssv16297143; dbVar:nssv15148941; dbVar:nssv17969921; dbVar:nssv15153540; dbVar:nssv18790597; dbVar:nssv16255537 po_P_loss_coord : 3:181116549-183833873; 3:181138665-192512023; 3:181344388-185756721; 3:181453423-184988303; 3:182319765-186443121; 3:182471738-187495147; 3:182932894-191558020; 3:183015439-184376309; 3:183159504-187112971 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr3:183360539-183366446 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr3:183360539-183366446 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 3:183360688-183360987; 3:183360988-183361141; 3:183361160-183361191 Repeat_type_left : AluSq; A-rich; (GGAA)n Gap_left : . GC_content_left : 0.330 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 3:183360688-183360987; 3:183360988-183361141; 3:183361160-183361191 Repeat_type_right : AluSq; A-rich; (GGAA)n Gap_right : . GC_content_right : 0.335 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : 55 |
splitAnnotation_mode : split |
MCF2L2Gene_name : MCF2L2; LOEUF_bin : 4 GnomAD_pLI : 1.1565e-24 ExAC_pLI : 1.6127e-12 HI : . TS : . DDD_HI_percent : 63.45 ACMG : . ExAC_cnvZ : -0.502634800387437 ExAC_delZ : -2.00231703714954 ExAC_dupZ : 0.40280827112354 ExAC_synZ : 1.17753738225999 ExAC_misZ : 0.366004400627627 GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : 23101 |
intron3-intron3Location : intron3-intron3 CytoBand : q27.1 Location2 : CDS Tx : NM_015078 Tx_version : 4 Tx_start : 183178040 Tx_end : 183428619 Exon_count : 30 Overlapped_tx_length : 1 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 18219 Nearest_SS_type : 5' Intersect_start : 183361076 Intersect_end : 183361077 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
0.0000Exomiser_gene_pheno_score : 0.0000 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : dbVar B_loss_coord : chr3:183360539-183366446 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : . Gene_count : 1 |
fullAnnotation_mode : full |
LOC105376959Gene_name : LOC105376959; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01267 Closest_right : SLC6A6 |
.Location : . CytoBand : p25.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
SLC6A6 (morbid/RE=GH_enhancer); RE_gene : SLC6A6 (morbid/RE=GH_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv17969827; dbVar:nssv15151098; dbVar:nssv17969828; dbVar:nssv15149909; dbVar:nssv15149891; nssv15151839; dbVar:nssv15145877; dbVar:nssv15147393; dbVar:nssv15146217; dbVar:nssv15148928; dbVar:nssv15146372; dbVar:nssv15153450; dbVar:nssv15152843; dbVar:nssv15133494; dbVar:nssv15163762; dbVar:nssv18326445; dbVar:nssv15139669; dbVar:nssv17955660 po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20214-24391330; 3:20214-33916709; 3:20214-36668690; 3:20214-37417973; 3:20215-198125115; 3:32242-20334387; 3:32242-30064208; 3:52267-37148076; 3:53309-41381521; 3:63844-19510600; 3:1856289-19477593; 3:5132186-16718755; 3:11463329-38919543; 3:13234506-24253749; 3:13794844-25315936; 3:14360748-21656134; 3:14364978-14467580 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.10 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17976929; dbVar:nssv15142081 po_P_loss_coord : 3:13371738-20095506; 3:13678724-17766744 po_P_loss_percent : 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573 B_loss_AFmax : 0.0446 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 3:14396767-14397239 Repeat_type_left : L1ME2 Gap_left : . GC_content_left : 0.595 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 3:14396767-14397239 Repeat_type_right : L1ME2 Gap_right : . GC_content_right : 0.570 |
|
full=NAACMG_class : full=NA |
INSSV_type : INS SV_length : . |
splitAnnotation_mode : split |
LOC105376959Gene_name : LOC105376959; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
intron4-intron4Location : intron4-intron4 CytoBand : p25.1 Location2 : UTR Tx : XR_007095825 Tx_version : 1 Tx_start : 14389741 Tx_end : 14402407 Exon_count : 8 Overlapped_tx_length : 101 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 5 Nearest_SS_type : 5' Intersect_start : 14396802 Intersect_end : 14396903 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286 B_loss_coord : chr3:11110259-145805573 B_loss_AFmax : 0.0446 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INVSV_type : INV SV_length : 674 Gene_count : 1 |
fullAnnotation_mode : full |
LOC105373224Gene_name : LOC105373224; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : CHRM3-AS1 Closest_right : RPS7P5 |
.Location : . CytoBand : q43 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
FMN2 (morbid/RE=GH_enhancer); CHRM3 (morbid/R[...]RE_gene : FMN2 (morbid/RE=GH_enhancer); CHRM3 (morbid/RE=GH_enhancer); |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15777262; dbVar:nssv15151024; dbVar:nssv18326443; dbVar:nssv16207620; dbVar:nssv15146793; dbVar:nssv15147003; dbVar:nssv15146656; dbVar:nssv16215284; dbVar:nssv15145669; dbVar:nssv15154064; dbVar:nssv15146178; dbVar:nssv18329268; dbVar:nssv15147314; dbVar:nssv15147005; dbVar:nssv15146390; dbVar:nssv15150211; dbVar:nssv15147383; dbVar:nssv15146391; dbVar:nssv15126459; dbVar:nssv15146018; dbVar:nssv15156411; dbVar:nssv16206538; dbVar:nssv15147341; dbVar:nssv15149590; dbVar:nssv15170725; dbVar:nssv15149119; dbVar:nssv15774642; dbVar:nssv15776729 po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:182419639-248817041; 1:195514310-248918801; 1:197898785-248930485; 1:204076821-248924793; 1:207346643-248930485; 1:209646208-248931113; 1:209963626-248918469; 1:209979450-248924793; 1:214023813-248918469; 1:218079210-248930485; 1:223347694-248918469; 1:223785238-248930485; 1:223815148-248918469; 1:223828501-248891309; 1:223887781-248891309; 1:223917593-248930485; 1:224022863-248918469; 1:224096489-248918469; 1:224862286-248938897; 1:225438481-248787200; 1:228342273-248887399; 1:228696991-240830577; 1:229022910-248918469; 1:231535125-248918801; 1:232096590-248924793; 1:233915119-248918860; 1:235419266-248930485; 1:238505994-248930485 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15146215; dbVar:nssv18842031; dbVar:nssv17969448; dbVar:nssv15125505; dbVar:nssv18330325; dbVar:nssv18326340; dbVar:nssv15141219; dbVar:nssv18841919; dbVar:nssv15149874; dbVar:nssv15170728; dbVar:nssv15148823; dbVar:nssv15773669; dbVar:nssv15148210; dbVar:nssv15146578; dbVar:nssv15148138; dbVar:nssv15148243; dbVar:nssv15146635; dbVar:nssv15133237; dbVar:nssv15755165; dbVar:nssv15146644; dbVar:nssv15148925; dbVar:nssv15146499; dbVar:nssv15146500; dbVar:nssv18330244 po_P_loss_coord : 1:230106272-243677283; 1:230178122-243646135; 1:232090864-240847604; 1:232510679-242493037; 1:232596376-243174914; 1:232877249-248912719; 1:234469808-240768905; 1:235215477-247005888; 1:235634085-248930485; 1:236453917-244352076; 1:236556083-248918469; 1:237081535-242147606; 1:237643282-248918469; 1:237906380-244022201; 1:238033576-248924534; 1:238192881-248930485; 1:238351122-248918469; 1:238412093-241098768; 1:238654324-243974928; 1:238753750-248918467; 1:239288026-242458053; 1:239558431-248918469; 1:239629869-248924593; 1:239747661-248930485 po_P_loss_percent : 0.00; 0.01; 0.01; 0.01; 0.01; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.03; 0.01; 0.01; 0.02; 0.01; 0.01; 0.01 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr1:239811336-239953758; chr1:239949966-240058047 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr1:239947020-239963616 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr1:239949966-240058047 dbVar po_B_gain_someG_coord : chr1:239811336-239953758 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : chr1:239947020-239963616 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.580 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.520 |
|
full=NAACMG_class : full=NA |
INVSV_type : INV SV_length : 674 |
splitAnnotation_mode : split |
LOC105373224Gene_name : LOC105373224; LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ACMG : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . GenCC_disease : . GenCC_moi : . GenCC_classification : . GenCC_pmid : . NCBI_gene_ID : . |
txStart-exon1Location : txStart-exon1 CytoBand : q43 Location2 : UTR Tx : XR_949315 Tx_version : 4 Tx_start : 239914599 Tx_end : 239953006 Exon_count : 3 Overlapped_tx_length : 297 Overlapped_CDS_length : 0 Overlapped_CDS_percent : 0 Frameshift : no Dist_nearest_SS : 245 Nearest_SS_type : 5' Intersect_start : 239952709 Intersect_end : 239953006 |
.OMIM_ID : . OMIM_phenotype : . OMIM_inheritance : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 Human_pheno_evidence : . Mouse_pheno_evidence : . Fish_pheno_evidence : . |
.PhenoGenius_specificity : . PhenoGenius_phenotype : . PhenoGenius_score : -1.0 |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr1:239811336-239953758; chr1:239949966-240058047 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr1:239947020-239963616 B_loss_AFmax : 0.01 |
.ENCODE_blacklist_characteristics_left : . |
.ENCODE_blacklist_characteristics_right : . |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC105379273 Closest_right : LOC107987343 |
.Location : . CytoBand : q11.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : . po_P_gain_coord : . po_P_gain_percent : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : Y:11778158-11856234 Repeat_coord_left : Y:11818958-11818999 Repeat_type_left : L2a Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : Y:11778158-11856234 Repeat_coord_right : Y:11818958-11818999 Repeat_type_right : L2a Gap_right : . GC_content_right : 0.375 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : C22orf42 Closest_right : RFPL2 |
.Location : . CytoBand : q12.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161992; dbVar:nssv15164031; dbVar:nssv15150031; dbVar:nssv16254742; dbVar:nssv15150491; dbVar:nssv15146973; dbVar:nssv15161990; dbVar:nssv15774756; dbVar:nssv15149512; nssv15150794; dbVar:nssv15146613; dbVar:nssv15147269; dbVar:nssv15128500; dbVar:nssv15135998; dbVar:nssv15154019; dbVar:nssv15134705; dbVar:nssv15142303; dbVar:nssv15132509; dbVar:nssv15141185; dbVar:nssv16208602 po_P_gain_coord : 22:16367191-50757300; 22:16367191-50772964; 22:16367191-50782474; 22:16367191-50785824; 22:16367191-50799035; 22:16367191-50799090; 22:16367191-50805007; 22:16408174-50759410; 22:16408175-50759410; 22:16916609-50739836; 22:16916744-50739785; 22:18145366-50806138; 22:20907227-37187347; 22:22106345-34802241; 22:23279232-36247369; 22:23295721-36218366; 22:26979580-33992220; 22:27953867-32617076; 22:30258776-50759410 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr22:32069077-32384600; chr22:32132680-32307112; chr22:32154513-32189513 B_gain_AFmax : 0.01 B_loss_source : dbVar B_loss_coord : chr22:32174835-32185134; chr22:32175039-32185298 B_loss_AFmax : 0.01 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr22:32132680-32307112 dbVar; po_B_gain_someG_coord : chr22:32069077-32384600 dbVar; chr22:32154513-32189513 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr22:32175039-32185298 dbVar po_B_loss_someG_coord : chr22:32174835-32185134 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 22:32175878-32184749 Repeat_coord_left : 22:32179692-32179763; 22:32179764-32179771; 22:32179772-32179851 Repeat_type_left : (AC)n; (ACAT)n; MADE1 Gap_left : . GC_content_left : 0.375 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 22:32175878-32184749 Repeat_coord_right : 22:32179692-32179763; 22:32179764-32179771; 22:32179772-32179851 Repeat_type_right : (AC)n; (ACAT)n; MADE1 Gap_right : . GC_content_right : 0.375 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC102724200 Closest_right : LINC01670 |
.Location : . CytoBand : p12 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : . po_P_gain_coord : . po_P_gain_percent : . po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
High Signal RegionENCODE_blacklist_characteristics_left : High Signal Region ENCODE_blacklist_left : 21:1-8679600 SegDup_left : 21:5216248-5223848; 21:5216248-5223848; 21:5216248-5244683; 21:5216248-5246242; 21:5216248-5249366; 21:5216250-5230164; 21:5216258-5225878; 21:5216317-5248319 Repeat_coord_left : 21:5216248-5216649 Repeat_type_left : L1MA9 Gap_left : . GC_content_left : 0.300 |
High Signal RegionENCODE_blacklist_characteristics_right : High Signal Region ENCODE_blacklist_right : 21:1-8679600 SegDup_right : 21:5216248-5223848; 21:5216248-5223848; 21:5216248-5244683; 21:5216248-5246242; 21:5216248-5249366; 21:5216250-5230164; 21:5216258-5225878; 21:5216317-5248319 Repeat_coord_right : 21:5216248-5216649 Repeat_type_right : L1MA9 Gap_right : . GC_content_right : 0.300 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : FRG1CP Closest_right : FRG1DP |
.Location : . CytoBand : q11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161655; dbVar:nssv15143157; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281; dbVar:nssv17969243; dbVar:nssv17969245; dbVar:nssv15126160 po_P_gain_coord : 20:80107-30227427; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87197-30403687; 20:89940-30285316; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812; 20:24182140-33233051; 20:25461962-35173747; 20:25774465-40429426 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
High Signal RegionENCODE_blacklist_characteristics_left : High Signal Region ENCODE_blacklist_left : 20:28939401-29264700 SegDup_left : 20:29045066-29054930; 20:29045066-29067121; 20:29045066-29095772; 20:29045066-29104712; 20:29045066-29108496; 20:29045066-29117887; 20:29045066-29125693; 20:29045066-29125796; 20:29047069-29083608; 20:29047069-29125796 Repeat_coord_left : 20:29054317-29056657 Repeat_type_left : L1MA9 Gap_left : . GC_content_left : 0.320 |
High Signal RegionENCODE_blacklist_characteristics_right : High Signal Region ENCODE_blacklist_right : 20:28939401-29264700 SegDup_right : 20:29045066-29054930; 20:29045066-29067121; 20:29045066-29095772; 20:29045066-29104712; 20:29045066-29108496; 20:29045066-29117887; 20:29045066-29125693; 20:29045066-29125796; 20:29047069-29083608; 20:29047069-29125796 Repeat_coord_right : 20:29054317-29056657 Repeat_type_right : L1MA9 Gap_right : . GC_content_right : 0.325 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124904678 Closest_right : LOC105372345 |
.Location : . CytoBand : q11 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15173860; dbVar:nssv15150638; nssv15150782; dbVar:nssv15173861; dbVar:nssv15147244; dbVar:nssv15147146; dbVar:nssv15146318; dbVar:nssv17955801 po_P_gain_coord : 19:68030-58598923; 19:260913-58445521; 19:260913-58585793; 19:11227943-44626354; 19:13974678-27839676; 19:17176768-34924150; 19:19436115-40807324 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
High Signal RegionENCODE_blacklist_characteristics_left : High Signal Region ENCODE_blacklist_left : 19:24330101-27274500 SegDup_left : . Repeat_coord_left : 19:27240877-27250823 Repeat_type_left : ALR/Alpha Gap_left : 19:27190875-27240874 GC_content_left : 0.130 (132 N) |
High Signal RegionENCODE_blacklist_characteristics_right : High Signal Region ENCODE_blacklist_right : 19:24330101-27274500 SegDup_right : . Repeat_coord_right : 19:27240877-27250823 Repeat_type_right : ALR/Alpha Gap_right : 19:27190875-27240874 GC_content_right : 0.130 (131 N) |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : 50 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : UNC13A Closest_right : MAP1S |
.Location : . CytoBand : p13.11 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15173860; dbVar:nssv15150638; nssv15150782; dbVar:nssv15173861; dbVar:nssv15147244; dbVar:nssv15147146; dbVar:nssv16254308; dbVar:nssv15145840; dbVar:nssv15174494; dbVar:nssv15146318 po_P_gain_coord : 19:68030-58598923; 19:260913-58445521; 19:260913-58585793; 19:11227943-44626354; 19:13974678-27839676; 19:14175813-20773947; 19:15133595-24193591; 19:16415977-24448802; 19:17176768-34924150 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15151072 po_P_loss_coord : 19:15848538-17790487 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr19:17705852-17723331 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr19:17705852-17723331 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 19:17708263-17708899 Repeat_type_left : (TATATAA)n Gap_left : . GC_content_left : 0.120 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 19:17708263-17708899 Repeat_type_right : (TATATAA)n Gap_right : . GC_content_right : 0.115 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02167 Closest_right : . |
.Location : . CytoBand : p11.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15158812; dbVar:nssv15148703; dbVar:nssv15150639; nssv15151292; dbVar:nssv15158813; dbVar:nssv15158224; dbVar:nssv15126469; dbVar:nssv15150356 po_P_gain_coord : 16:11452-90228224; 16:19194-90207973; 16:35882-90088654; 16:38166-90096867; 16:38166-90208287; 16:31974778-90228345; 16:34963122-64475151 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
High Signal RegionENCODE_blacklist_characteristics_left : High Signal Region ENCODE_blacklist_left : 16:36225201-46423000 SegDup_left : . Repeat_coord_left : 16:36337669-36500000 Repeat_type_left : ALR/Alpha Gap_left : . GC_content_left : 0.400 |
High Signal RegionENCODE_blacklist_characteristics_right : High Signal Region ENCODE_blacklist_right : 16:36225201-46423000 SegDup_right : . Repeat_coord_right : 16:36337669-36500000 Repeat_type_right : ALR/Alpha Gap_right : . GC_content_right : 0.405 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC02349 Closest_right : LOC124903501 |
.Location : . CytoBand : q22.2 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15172447; dbVar:nssv15125410; dbVar:nssv15172190; dbVar:nssv15149616; dbVar:nssv15150618; nssv15150717; dbVar:nssv15151655; dbVar:nssv15148445; dbVar:nssv18329578; dbVar:nssv15147594; dbVar:nssv15146047 po_P_gain_coord : 15:19811559-101953337; 15:19858088-101981189; 15:19866421-101920959; 15:20528157-101971413; 15:23319715-101888909; 15:30822845-101814654; 15:41452887-101814595; 15:48297649-63251239; 15:59005095-101940685; 15:59828461-101920998 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15127755; dbVar:nssv15127602; dbVar:nssv15140571; dbVar:nssv15132072; dbVar:nssv15121017; dbVar:nssv15142027 po_P_loss_coord : 15:23377380-101981189; 15:28917418-101981189; 15:54421361-62477096; 15:57456077-61907285; 15:57567951-63019415; 15:57796306-61929557 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr15_6b875bca; gnomAD-SV_v3_DEL_chr15_c4d4814a B_loss_coord : chr15:32070448-77618522; chr15:56865558-77618525 B_loss_AFmax : 0.9955 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr15:56865558-77618525 gnomAD-SV_v3_DEL_chr15_c4d4814a po_B_loss_someG_coord : chr15:32070448-77618522 gnomAD-SV_v3_DEL_chr15_6b875bca |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 15:61772098-61773495 Repeat_type_left : L1MEc Gap_left : . GC_content_left : 0.290 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 15:61772098-61773495 Repeat_type_right : L1MEc Gap_right : . GC_content_right : 0.290 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : . Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124900329 Closest_right : LOC124903079 |
.Location : . CytoBand : q24.21 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv15148260 po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:114268404-133201316 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17974049; dbVar:nssv17969556 po_P_loss_coord : 12:112682848-114924779; 12:114557841-114939120 po_P_loss_percent : 0.01; 0.05 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr12:114823194-114917195 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr12:114823194-114917195 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 12:114828266-114828453 Repeat_type_left : MER103C Gap_left : . GC_content_left : 0.370 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.370 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124902228 Closest_right : ANKS6 |
.Location : . CytoBand : q22.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147961; dbVar:nssv17970351; dbVar:nssv15147345; dbVar:nssv15153083; dbVar:nssv17970381; dbVar:nssv15775708; dbVar:nssv15148134; dbVar:nssv15146551; dbVar:nssv15141942 po_P_gain_coord : 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203863-138125937; 9:204194-138179445; 9:353350-138125937; 9:68420431-106579493; 9:68454828-138105476; 9:68735079-119841132; 9:68801560-138125937; 9:69627643-111454304; 9:88522293-113687796; 9:94790895-100157101 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv17976658; dbVar:nssv16215226; dbVar:nssv15120788; dbVar:nssv16865887; dbVar:nssv17971843; dbVar:nssv15142176 po_P_loss_coord : 9:91102693-103899300; 9:93363794-105772991; 9:95061031-108695569; 9:95072292-104436807; 9:97428467-100300674; 9:97862911-99366856 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr9:98582490-99663995; chr9:98682173-98728622 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : chr9:98682173-98728622 dbVar po_B_gain_someG_coord : chr9:98582490-99663995 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 9:98709141-98720221 Repeat_coord_left : 9:98712735-98712812; 9:98712849-98712892 Repeat_type_left : MADE1; (TG)n Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 9:98709141-98720221 Repeat_coord_right : 9:98712735-98712812; 9:98712849-98712892 Repeat_type_right : MADE1; (TG)n Gap_right : . GC_content_right : 0.365 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INVSV_type : INV SV_length : 103 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC102724080 Closest_right : LOC105376123 |
.Location : . CytoBand : q21.33 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147961; dbVar:nssv17970351; dbVar:nssv15152084; dbVar:nssv15147345; dbVar:nssv15153083; dbVar:nssv17970381; dbVar:nssv15775708; dbVar:nssv15148134; dbVar:nssv15605845 po_P_gain_coord : 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-88130444; 9:203863-138125937; 9:204194-138179445; 9:353350-138125937; 9:68351347-88146339; 9:68420431-106579493; 9:68454828-138105476; 9:68735079-119841132; 9:68801560-138125937; 9:69627643-111454304; 9:76905910-94438992 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15135929 po_P_loss_coord : 9:86079852-91827221 po_P_loss_percent : 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr9:86539642-86540940 HPRC:pbsv.DEL.4480; 9:86539643-86541030 IMH; 9:86539662-86540997 1000g; po_B_loss_someG_coord : 9:86539642-86540940 CMRI:3_pbsv.DEL.1233_duplicate2; chr9:86539642-86541031 dbVar; chr9:86539661-86540997 dbVar; 9:86539662-86540997 esv3620958 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 9:86540288-86540866 Repeat_type_left : L2 Gap_left : . GC_content_left : 0.365 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.385 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
INSSV_type : INS SV_length : . Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : EIF3IP1 Closest_right : LOC105375451 |
.Location : . CytoBand : q31.1 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15147343; dbVar:nssv15153681; dbVar:nssv17970243; dbVar:nssv16208848; dbVar:nssv16206899 po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:97419853-158923762; 7:99095766-159327017; 7:107343843-129309648; 7:109611004-159327017; 7:109954943-114245148 po_P_gain_percent : 0.03; 0.03; 0.03; 0.03; 0.07; 0.07; 0.19; 0.08; 0.98 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15161318; dbVar:nssv17970239; dbVar:nssv17970240; dbVar:nssv15132621; dbVar:nssv15135220; dbVar:nssv15122028; dbVar:nssv16208150; dbVar:nssv15777267; dbVar:nssv15126350; dbVar:nssv15125914; dbVar:nssv15149094; dbVar:nssv15146938 po_P_loss_coord : 7:54186-159282390; 7:99819849-111946253; 7:101033592-119516106; 7:101807150-112414850; 7:102196925-121278641; 7:106261940-111228036; 7:106976962-123577860; 7:107769870-118185495; 7:108156201-123536527; 7:108172813-111974915; 7:108862565-115331733; 7:109409603-111490602 po_P_loss_percent : 0.03; 0.35; 0.23; 0.40; 0.22; 0.85; 0.25; 0.40; 0.27; 1.10; 0.65; 2.02 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr7:110309934-110319378 dbVar po_B_loss_someG_coord : chr7:110285474-110285530 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 7:110278340-110278441; 7:110278550-110278660 Repeat_type_left : L1M5; L1M5 Gap_left : . GC_content_left : 0.305 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 7:110320010-110320729 Repeat_type_right : MER11A Gap_right : . GC_content_right : 0.465 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC124900753 Closest_right : RPL34-DT |
.Location : . CytoBand : q25 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv17956560; dbVar:nssv15142052; dbVar:nssv17956567; dbVar:nssv15121045; dbVar:nssv17969974; dbVar:nssv15165140; dbVar:nssv15120562; dbVar:nssv15151155 po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:52000779-142661354; 4:92150002-190036318; 4:94569605-109056060; 4:96092894-136410207; 4:103794079-144331443; 4:104118037-109488822; 4:105778348-110206873; 4:108278509-188831572 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : . po_P_loss_coord : . po_P_loss_percent : . |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_b7efc8a3; gnomAD-SV_v3_DEL_chr4_e8bd9f62 B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:105985332-120588333 B_loss_AFmax : 0.7587 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : chr4:90675744-168705093 gnomAD-SV_v3_DEL_chr4_e8bd9f62; po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9; chr4:105985332-120588333 gnomAD-SV_v3_DEL_chr4_b7efc8a3 |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 4:108408718-108408771; 4:108408772-108408829; 4:108408841-108410586 Repeat_type_left : AluY; (CCTCTCC)n; SVA_E Gap_left : . GC_content_left : 0.480 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 4:108408718-108408771; 4:108408772-108408829; 4:108408841-108410586 Repeat_type_right : AluY; (CCTCTCC)n; SVA_E Gap_right : . GC_content_right : 0.485 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LINC01946 Closest_right : MEMO1 |
.Location : . CytoBand : p22.3 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161566; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv15161279; dbVar:nssv15161375; dbVar:nssv18330214; dbVar:nssv15174677; dbVar:nssv15129649; dbVar:nssv17683481; dbVar:nssv17649985; dbVar:nssv15141007; dbVar:nssv15141897 po_P_gain_coord : 2:10002-242157305; 2:12771-33711509; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:66098-55570637; 2:236817-45983232; 2:706461-35298573; 2:22442177-52623230; 2:22699680-33767010; 2:24378950-43239145; 2:24658660-43232882; 2:27638841-60563850; 2:27847016-43316281 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15152706; dbVar:nssv17969625; dbVar:nssv15775815; dbVar:nssv15119949; dbVar:nssv15120770; dbVar:nssv15771945 po_P_loss_coord : 2:11364193-110608419; 2:29017139-32155807; 2:29676503-42214300; 2:29717608-36586154; 2:31368633-32087629; 2:31370182-32512769; 2:31733909-33721428 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
dbVarB_gain_source : dbVar B_gain_coord : chr2:31799931-31825931 B_gain_AFmax : 0.01 B_loss_source : . B_loss_coord : . B_loss_AFmax : . po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : chr2:31799931-31825931 dbVar po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : . po_B_loss_someG_coord : . |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : . Repeat_coord_left : 2:31823404-31823459 Repeat_type_left : Penelope1_Vert Gap_left : . GC_content_left : 0.490 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : . Repeat_coord_right : 2:31823404-31823459 Repeat_type_right : Penelope1_Vert Gap_right : . GC_content_right : 0.485 |
|
NAACMG_class : NA AnnotSV_ranking_score : . AnnotSV_ranking_criteria : . |
TRASV_type : TRA SV_length : 0 Gene_count : 0 |
fullAnnotation_mode : full |
.Gene_name : . LOEUF_bin : . GnomAD_pLI : . ExAC_pLI : . HI : . TS : . DDD_HI_percent : . ExAC_cnvZ : . ExAC_delZ : . ExAC_dupZ : . ExAC_synZ : . ExAC_misZ : . Closest_left : LOC107985466 Closest_right : LINC01347 |
.Location : . CytoBand : q43 |
.OMIM_ID : . OMIM_morbid : . OMIM_morbid_candidate : . |
-1.0Exomiser_gene_pheno_score : -1.0 |
.PhenoGenius_specificity : . |
.RE_gene : . |
.P_gain_coord : . P_gain_source : . P_gain_phen : . P_gain_hpo : . P_loss_coord : . P_loss_source : . P_loss_phen : . P_loss_hpo : . po_P_gain_phen : . po_P_gain_hpo : . po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv15777262; dbVar:nssv15151024; dbVar:nssv18326443; dbVar:nssv16207620; dbVar:nssv15146793; dbVar:nssv15147003; dbVar:nssv15146656; dbVar:nssv16215284; dbVar:nssv15145669; dbVar:nssv15154064; dbVar:nssv15146178; dbVar:nssv18329268; dbVar:nssv15147314; dbVar:nssv15147005; dbVar:nssv15146390; dbVar:nssv15150211; dbVar:nssv15147383; dbVar:nssv15146391; dbVar:nssv15126459; dbVar:nssv15146018; dbVar:nssv15156411; dbVar:nssv15147341; dbVar:nssv15149590; dbVar:nssv15170725; dbVar:nssv15149119; dbVar:nssv15774642; dbVar:nssv15776729; dbVar:nssv15145719; dbVar:nssv15156414; dbVar:nssv15145830; dbVar:nssv15136049; dbVar:nssv15142850; dbVar:nssv15140102; dbVar:nssv15119915 po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:182419639-248817041; 1:195514310-248918801; 1:197898785-248930485; 1:204076821-248924793; 1:207346643-248930485; 1:209646208-248931113; 1:209963626-248918469; 1:209979450-248924793; 1:214023813-248918469; 1:218079210-248930485; 1:223347694-248918469; 1:223785238-248930485; 1:223815148-248918469; 1:223828501-248891309; 1:223887781-248891309; 1:223917593-248930485; 1:224022863-248918469; 1:224096489-248918469; 1:224862286-248938897; 1:225438481-248787200; 1:228342273-248887399; 1:229022910-248918469; 1:231535125-248918801; 1:232096590-248924793; 1:233915119-248918860; 1:235419266-248930485; 1:238505994-248930485; 1:240244445-248891309; 1:240794756-243535565; 1:241625116-245453782; 1:241967140-245542967; 1:242161097-248930485; 1:242493159-248918801; 1:242828732-248891309 po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 po_P_loss_phen : . po_P_loss_hpo : . po_P_loss_source : dbVar:nssv15146215; dbVar:nssv18842031; dbVar:nssv18330325; dbVar:nssv18326340; dbVar:nssv18841919; dbVar:nssv15149874; dbVar:nssv15170728; dbVar:nssv15148823; dbVar:nssv15148210; dbVar:nssv15146578; dbVar:nssv15148138; dbVar:nssv15148243; dbVar:nssv15146635; dbVar:nssv15755165; dbVar:nssv15146644; dbVar:nssv15146499; dbVar:nssv15146500; dbVar:nssv18330244; dbVar:nssv16867377; dbVar:nssv15150727; dbVar:nssv15145856; dbVar:nssv15153348; dbVar:nssv15146579; dbVar:nssv15147199; dbVar:nssv15133000; dbVar:nssv15131783; dbVar:nssv18329412; dbVar:nssv15605825; dbVar:nssv15138053; dbVar:nssv15123369; dbVar:nssv18841924; dbVar:nssv15124422; dbVar:nssv15133001; dbVar:nssv15770792; dbVar:nssv16207770; dbVar:nssv15133002; dbVar:nssv16207771; dbVar:nssv17976952 po_P_loss_coord : 1:230106272-243677283; 1:230178122-243646135; 1:232596376-243174914; 1:232877249-248912719; 1:235215477-247005888; 1:235634085-248930485; 1:236453917-244352076; 1:236556083-248918469; 1:237643282-248918469; 1:237906380-244022201; 1:238033576-248924534; 1:238192881-248930485; 1:238351122-248918469; 1:238654324-243974928; 1:238753750-248918467; 1:239558431-248918469; 1:239629869-248924593; 1:239747661-248930485; 1:240391656-247179291; 1:240456985-247527115; 1:240465123-248918469; 1:240887871-248930485; 1:241047423-248924593; 1:241459441-247704671; 1:241676909-245647727; 1:241757250-248891309; 1:241881896-248918469; 1:241987033-246355060; 1:242045280-248930485; 1:242100311-244396371; 1:242164275-245299473; 1:242193907-246215521; 1:242240798-245200164; 1:242268257-243843190; 1:242319881-244923746; 1:242410570-245413313; 1:242546033-244062209; 1:242653209-244633815 po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00 |
.P_snvindel_nb : . P_snvindel_phen : . |
.B_gain_source : . B_gain_coord : . B_gain_AFmax : . B_loss_source : DDD:4461; dbVar B_loss_coord : chr1:242879460-243000891; 1:242888528-242959068 B_loss_AFmax : 0.0118 po_B_gain_allG_source : . po_B_gain_allG_coord : . po_B_gain_someG_source : . po_B_gain_someG_coord : . po_B_loss_allG_source : . po_B_loss_allG_coord : . po_B_loss_someG_source : 1:242888528-242959068 DDD:4461 po_B_loss_someG_coord : chr1:242879460-243000891 dbVar |
.ENCODE_blacklist_characteristics_left : . ENCODE_blacklist_left : . SegDup_left : 1:242879127-242956979 Repeat_coord_left : . Repeat_type_left : . Gap_left : . GC_content_left : 0.275 |
.ENCODE_blacklist_characteristics_right : . ENCODE_blacklist_right : . SegDup_right : 1:242879127-242956979 Repeat_coord_right : . Repeat_type_right : . Gap_right : . GC_content_right : 0.275 |